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nsv2781778

  • Variant Calls:9
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 207 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):173,070,559-173,070,559Question Mark
Overlapping variant regions from other studies: 208 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):173,070,823-173,070,823Question Mark
Overlapping variant regions from other studies: 277 SVs from 33 studies. See in: genome view    
Remapped(Score: Perfect):178,577,686-178,577,686Question Mark
Overlapping variant regions from other studies: 275 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):178,578,753-178,578,753Question Mark
Overlapping variant regions from other studies: 138 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):34,389,381-34,389,381Question Mark
Overlapping variant regions from other studies: 138 SVs from 31 studies. See in: genome view    
Remapped(Score: Perfect):34,389,386-34,389,386Question Mark
Overlapping variant regions from other studies: 90 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):62,885,458-62,885,458Question Mark
Overlapping variant regions from other studies: 90 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):62,885,470-62,885,470Question Mark
Overlapping variant regions from other studies: 293 SVs from 30 studies. See in: genome view    
Remapped(Score: Perfect):6,819,211-6,819,211Question Mark
Overlapping variant regions from other studies: 293 SVs from 30 studies. See in: genome view    
Remapped(Score: Perfect):6,819,217-6,819,217Question Mark
Overlapping variant regions from other studies: 125 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):15,947,409-15,947,409Question Mark
Overlapping variant regions from other studies: 128 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):15,947,418-15,947,418Question Mark
Overlapping variant regions from other studies: 128 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):16,375,711-16,375,711Question Mark
Overlapping variant regions from other studies: 128 SVs from 17 studies. See in: genome view    
Remapped(Score: Perfect):16,375,711-16,375,711Question Mark
Overlapping variant regions from other studies: 136 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):20,727,182-20,727,182Question Mark
Overlapping variant regions from other studies: 136 SVs from 23 studies. See in: genome view    
Remapped(Score: Perfect):20,727,190-20,727,190Question Mark
Overlapping variant regions from other studies: 142 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):20,761,020-20,761,020Question Mark
Overlapping variant regions from other studies: 142 SVs from 25 studies. See in: genome view    
Remapped(Score: Perfect):20,761,058-20,761,058Question Mark
Overlapping variant regions from other studies: 207 SVs from 26 studies. See in: genome view    
Submitted genomic173,991,710-173,991,710Question Mark
Overlapping variant regions from other studies: 208 SVs from 26 studies. See in: genome view    
Submitted genomic173,991,974-173,991,974Question Mark
Overlapping variant regions from other studies: 277 SVs from 33 studies. See in: genome view    
Submitted genomic179,498,840-179,498,840Question Mark
Overlapping variant regions from other studies: 275 SVs from 31 studies. See in: genome view    
Submitted genomic179,499,907-179,499,907Question Mark
Overlapping variant regions from other studies: 138 SVs from 31 studies. See in: genome view    
Submitted genomic34,389,486-34,389,486Question Mark
Overlapping variant regions from other studies: 138 SVs from 31 studies. See in: genome view    
Submitted genomic34,389,491-34,389,491Question Mark
Overlapping variant regions from other studies: 90 SVs from 18 studies. See in: genome view    
Submitted genomic62,181,285-62,181,285Question Mark
Overlapping variant regions from other studies: 90 SVs from 18 studies. See in: genome view    
Submitted genomic62,181,297-62,181,297Question Mark
Overlapping variant regions from other studies: 293 SVs from 30 studies. See in: genome view    
Submitted genomic6,819,324-6,819,324Question Mark
Overlapping variant regions from other studies: 293 SVs from 30 studies. See in: genome view    
Submitted genomic6,819,330-6,819,330Question Mark
Overlapping variant regions from other studies: 125 SVs from 16 studies. See in: genome view    
Submitted genomic15,947,640-15,947,640Question Mark
Overlapping variant regions from other studies: 128 SVs from 18 studies. See in: genome view    
Submitted genomic15,947,649-15,947,649Question Mark
Overlapping variant regions from other studies: 128 SVs from 17 studies. See in: genome view    
Submitted genomic16,375,942-16,375,942Question Mark
Overlapping variant regions from other studies: 128 SVs from 17 studies. See in: genome view    
Submitted genomic16,375,942-16,375,942Question Mark
Overlapping variant regions from other studies: 136 SVs from 23 studies. See in: genome view    
Submitted genomic20,727,413-20,727,413Question Mark
Overlapping variant regions from other studies: 136 SVs from 23 studies. See in: genome view    
Submitted genomic20,727,421-20,727,421Question Mark
Overlapping variant regions from other studies: 142 SVs from 25 studies. See in: genome view    
Submitted genomic20,761,251-20,761,251Question Mark
Overlapping variant regions from other studies: 142 SVs from 25 studies. See in: genome view    
Submitted genomic20,761,289-20,761,289Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4173,070,559173,070,559+
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4173,070,823173,070,823+
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4178,577,686178,577,686-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000004.12Chr4178,578,753178,578,753+
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr534,389,38134,389,381-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr534,389,38634,389,386+
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr562,885,45862,885,458+
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr562,885,47062,885,470+
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr56,819,2116,819,211-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000005.10Chr56,819,2176,819,217-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr615,947,40915,947,409+
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr615,947,41815,947,418-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr616,375,71116,375,711-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr616,375,71116,375,711-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,727,18220,727,182-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,727,19020,727,190-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,761,02020,761,020-
nsv2781778RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr620,761,05820,761,058+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4173,991,710173,991,710+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4173,991,974173,991,974+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4179,498,840179,498,840-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000004.11Chr4179,499,907179,499,907+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr534,389,48634,389,486-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr534,389,49134,389,491+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr562,181,28562,181,285+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr562,181,29762,181,297+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr56,819,3246,819,324-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr56,819,3306,819,330-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr615,947,64015,947,640+
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr615,947,64915,947,649-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr616,375,94216,375,942-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr616,375,94216,375,942-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,727,41320,727,413-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,727,42120,727,421-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,761,25120,761,251-
nsv2781778Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr620,761,28920,761,289+

Variant Call Information

Variant Call IDTypeSample IDMethodAnalysisClinVar IDOther Calls in this Sample and Study
nssv13659945copy number lossDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659934interchromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659944interchromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659937interchromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659936interchromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659938interchromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659941interchromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659942interchromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989
nssv13659935intrachromosomal translocationDGAP161SequencingSplit read and paired-end mappingSCV0003207989

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrStartStopstrand
nssv13659945RemappedPerfectNC_000004.12:g.173
070559delNC_000004
.12:g.178578753del		GRCh38.p12First PassNC_000004.12Chr4173,070,559173,070,559
nssv13659934RemappedPerfectGRCh38.p12First PassNC_000004.12Chr4173,070,823173,070,823+
nssv13659944RemappedPerfectGRCh38.p12First PassNC_000004.12Chr4178,577,686178,577,686-
nssv13659945RemappedPerfectNC_000004.12:g.173
070559delNC_000004
.12:g.178578753del		GRCh38.p12First PassNC_000004.12Chr4178,578,753178,578,753
nssv13659937RemappedPerfectGRCh38.p12First PassNC_000005.10Chr56,819,2116,819,211-
nssv13659934RemappedPerfectGRCh38.p12First PassNC_000005.10Chr56,819,2176,819,217-
nssv13659936RemappedPerfectGRCh38.p12First PassNC_000005.10Chr534,389,38134,389,381-
nssv13659938RemappedPerfectGRCh38.p12First PassNC_000005.10Chr534,389,38634,389,386+
nssv13659941RemappedPerfectGRCh38.p12First PassNC_000005.10Chr562,885,45862,885,458+
nssv13659942RemappedPerfectGRCh38.p12First PassNC_000005.10Chr562,885,47062,885,470+
nssv13659935RemappedPerfectGRCh38.p12First PassNC_000006.12Chr615,947,40915,947,409+
nssv13659936RemappedPerfectGRCh38.p12First PassNC_000006.12Chr615,947,41815,947,418-
nssv13659935RemappedPerfectGRCh38.p12First PassNC_000006.12Chr616,375,71116,375,711-
nssv13659938RemappedPerfectGRCh38.p12First PassNC_000006.12Chr616,375,71116,375,711-
nssv13659937RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,727,18220,727,182-
nssv13659942RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,727,19020,727,190-
nssv13659941RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,761,02020,761,020-
nssv13659944RemappedPerfectGRCh38.p12First PassNC_000006.12Chr620,761,05820,761,058+
nssv13659945Submitted genomic[NC_000004.11:g.17
3991710del];[NC_00
0004.11:g.17949990
7del]		GRCh37 (hg19)NC_000004.11Chr4173,991,710173,991,710
nssv13659934Submitted genomicGRCh37 (hg19)NC_000004.11Chr4173,991,974173,991,974+
nssv13659944Submitted genomicGRCh37 (hg19)NC_000004.11Chr4179,498,840179,498,840-
nssv13659945Submitted genomic[NC_000004.11:g.17
3991710del];[NC_00
0004.11:g.17949990
7del]		GRCh37 (hg19)NC_000004.11Chr4179,499,907179,499,907
nssv13659937Submitted genomicGRCh37 (hg19)NC_000005.9Chr56,819,3246,819,324-
nssv13659934Submitted genomicGRCh37 (hg19)NC_000005.9Chr56,819,3306,819,330-
nssv13659936Submitted genomicGRCh37 (hg19)NC_000005.9Chr534,389,48634,389,486-
nssv13659938Submitted genomicGRCh37 (hg19)NC_000005.9Chr534,389,49134,389,491+
nssv13659941Submitted genomicGRCh37 (hg19)NC_000005.9Chr562,181,28562,181,285+
nssv13659942Submitted genomicGRCh37 (hg19)NC_000005.9Chr562,181,29762,181,297+
nssv13659935Submitted genomicGRCh37 (hg19)NC_000006.11Chr615,947,64015,947,640+
nssv13659936Submitted genomicGRCh37 (hg19)NC_000006.11Chr615,947,64915,947,649-
nssv13659935Submitted genomicGRCh37 (hg19)NC_000006.11Chr616,375,94216,375,942-
nssv13659938Submitted genomicGRCh37 (hg19)NC_000006.11Chr616,375,94216,375,942-
nssv13659937Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,727,41320,727,413-
nssv13659942Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,727,42120,727,421-
nssv13659941Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,761,25120,761,251-
nssv13659944Submitted genomicGRCh37 (hg19)NC_000006.11Chr620,761,28920,761,289+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDSample IDHGVSTypeClinical InterpretationClinVar IDGenderOther Calls in this Sample and Study
nssv13659945DGAP161GRCh37: [NC_000004.11:g.173991710del];[NC_000004.11:g.179499907del]copy number lossSCV000320798Female9
nssv13659934DGAP161interchromosomal translocationSCV000320798Female9
nssv13659944DGAP161interchromosomal translocationSCV000320798Female9
nssv13659937DGAP161interchromosomal translocationSCV000320798Female9
nssv13659936DGAP161interchromosomal translocationSCV000320798Female9
nssv13659938DGAP161interchromosomal translocationSCV000320798Female9
nssv13659941DGAP161interchromosomal translocationSCV000320798Female9
nssv13659942DGAP161interchromosomal translocationSCV000320798Female9
nssv13659935DGAP161intrachromosomal translocationSCV000320798Female9

No genotype data were submitted for this variant

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