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nsv6314508

  • Variant Calls:3
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:1
  • Description:
    46;XY;t(6;9)(q16.2;q13)dn AND Autistic behavior
  • Publication(s):Redin et al. 2016

Genome View

Select assembly:
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):97,322,974-97,322,974Question Mark
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):97,322,985-97,322,985Question Mark
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):97,500,336-97,500,336Question Mark
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view    
Remapped(Score: Perfect):97,500,337-97,500,337Question Mark
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):77,426,009-77,426,009Question Mark
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view    
Remapped(Score: Perfect):77,426,009-77,426,009Question Mark
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view    
Submitted genomic97,770,850-97,770,850Question Mark
Overlapping variant regions from other studies: 76 SVs from 19 studies. See in: genome view    
Submitted genomic97,770,861-97,770,861Question Mark
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view    
Submitted genomic97,948,212-97,948,212Question Mark
Overlapping variant regions from other studies: 70 SVs from 15 studies. See in: genome view    
Submitted genomic97,948,213-97,948,213Question Mark
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view    
Submitted genomic80,040,925-80,040,925Question Mark
Overlapping variant regions from other studies: 75 SVs from 26 studies. See in: genome view    
Submitted genomic80,040,925-80,040,925Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrStartStopstrand
nsv6314508RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr697,322,97497,322,974+
nsv6314508RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr697,322,98597,322,985-
nsv6314508RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr697,500,33697,500,336-
nsv6314508RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000006.12Chr697,500,33797,500,337+
nsv6314508RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr977,426,00977,426,009+
nsv6314508RemappedPerfectGRCh38.p12Primary AssemblyFirst PassNC_000009.12Chr977,426,00977,426,009+
nsv6314508Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr697,770,85097,770,850+
nsv6314508Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr697,770,86197,770,861-
nsv6314508Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr697,948,21297,948,212-
nsv6314508Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000006.11Chr697,948,21397,948,213+
nsv6314508Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr980,040,92580,040,925+
nsv6314508Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000009.11Chr980,040,92580,040,925+

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975375interchromosomal translocationMultipleMultipleAutistic behavior; Autistic behaviorUncertain significanceClinVarRCV000258571.1, VCV000267948.1
nssv17975737intrachromosomal translocationMultipleMultipleAutistic behavior; Autistic behaviorUncertain significanceClinVarRCV000258676.1, VCV000267949.1
nssv17975376interchromosomal translocationMultipleMultipleAutistic behavior; Autistic behaviorUncertain significanceClinVarRCV000258571.1, VCV000267948.1

Variant Call Placement Information

Variant Call IDPlacement TypeScoreAssemblyReciprocitySequence IDChrStartStopstrand
nssv17975375RemappedPerfectGRCh38.p12First PassNC_000006.12Chr697,322,97497,322,974+
nssv17975737RemappedPerfectGRCh38.p12First PassNC_000006.12Chr697,322,98597,322,985-
nssv17975376RemappedPerfectGRCh38.p12First PassNC_000006.12Chr697,500,33697,500,336-
nssv17975737RemappedPerfectGRCh38.p12First PassNC_000006.12Chr697,500,33797,500,337+
nssv17975375RemappedPerfectGRCh38.p12First PassNC_000009.12Chr977,426,00977,426,009+
nssv17975376RemappedPerfectGRCh38.p12First PassNC_000009.12Chr977,426,00977,426,009+
nssv17975375Submitted genomicGRCh37 (hg19)NC_000006.11Chr697,770,85097,770,850+
nssv17975737Submitted genomicGRCh37 (hg19)NC_000006.11Chr697,770,86197,770,861-
nssv17975376Submitted genomicGRCh37 (hg19)NC_000006.11Chr697,948,21297,948,212-
nssv17975737Submitted genomicGRCh37 (hg19)NC_000006.11Chr697,948,21397,948,213+
nssv17975375Submitted genomicGRCh37 (hg19)NC_000009.11Chr980,040,92580,040,925+
nssv17975376Submitted genomicGRCh37 (hg19)NC_000009.11Chr980,040,92580,040,925+

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17975375interchromosomal translocationde novoAutistic behavior; Autistic behaviorUncertain significanceClinVarRCV000258571.1, VCV000267948.1
nssv17975737intrachromosomal translocationde novoAutistic behavior; Autistic behaviorUncertain significanceClinVarRCV000258676.1, VCV000267949.1
nssv17975376interchromosomal translocationde novoAutistic behavior; Autistic behaviorUncertain significanceClinVarRCV000258571.1, VCV000267948.1

No genotype data were submitted for this variant

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