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nsv6310552

  • Variant Calls:2
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:7,551
  • Description:
    See descriptions for individual calls in download files

Links to Other Resources

Source: NCBI

Genome View

Select assembly:
Overlapping variant regions from other studies: 97 SVs from 30 studies. See in: genome view    
Remapped(Score: Good):54,121,840-54,129,390Question Mark
Overlapping variant regions from other studies: 41 SVs from 16 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 48 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 46 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 46 SVs from 19 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 45 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 49 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 45 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 46 SVs from 18 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 49 SVs from 20 studies. See in: genome view    
Remapped(Score: Perfect):96,332-103,878Question Mark
Overlapping variant regions from other studies: 66 SVs from 17 studies. See in: genome view    
Submitted genomic54,625,219-54,632,765Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeScoreAssemblyAssembly UnitReciprocitySequence IDChrInner StartInner Stop
nsv6310552RemappedGoodGRCh38.p12Primary AssemblySecond PassNC_000019.10Chr1954,121,84054,129,390
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_9Second PassNT_187693.1Chr19|NT_1
87693.1		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_8Second PassNW_003571061.2Chr19|NW_0
03571061.2		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_6Second PassNW_003571059.2Chr19|NW_0
03571059.2		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_4Second PassNW_003571057.2Chr19|NW_0
03571057.2		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_5Second PassNW_003571058.2Chr19|NW_0
03571058.2		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_7Second PassNW_003571060.1Chr19|NW_0
03571060.1		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_3Second PassNW_003571056.2Chr19|NW_0
03571056.2		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_2First PassNW_003571055.2Chr19|NW_0
03571055.2		96,332103,878
nsv6310552RemappedPerfectGRCh38.p12ALT_REF_LOCI_1Second PassNW_003571054.1Chr19|NW_0
03571054.1		96,332103,878
nsv6310552Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000019.9Chr1954,625,21954,632,765

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17972659deletionMultipleMultiplenot providedPathogenicClinVarRCV001982933.3, VCV001459907.4
nssv17973935duplicationMultipleMultiplenot providedLikely pathogenicClinVarRCV002046081.5, VCV001520467.5

Variant Call Placement Information

Variant Call IDPlacement TypeScoreHGVSAssemblyReciprocitySequence IDChrInner StartInner Stop
nssv17972659RemappedPerfectNT_187693.1:g.(?_9
6332)_(103878_?)de
l		GRCh38.p12Second PassNT_187693.1Chr19|NT_1
87693.1		96,332103,878
nssv17973935RemappedPerfectNT_187693.1:g.(?_9
6332)_(103878_?)du
p		GRCh38.p12Second PassNT_187693.1Chr19|NT_1
87693.1		96,332103,878
nssv17972659RemappedPerfectNW_003571061.2:g.(
?_96332)_(103878_?
)del		GRCh38.p12Second PassNW_003571061.2Chr19|NW_0
03571061.2		96,332103,878
nssv17973935RemappedPerfectNW_003571061.2:g.(
?_96332)_(103878_?
)dup		GRCh38.p12Second PassNW_003571061.2Chr19|NW_0
03571061.2		96,332103,878
nssv17972659RemappedPerfectNW_003571057.2:g.(
?_96332)_(103878_?
)del		GRCh38.p12Second PassNW_003571057.2Chr19|NW_0
03571057.2		96,332103,878
nssv17972659RemappedPerfectNW_003571058.2:g.(
?_96332)_(103878_?
)del		GRCh38.p12Second PassNW_003571058.2Chr19|NW_0
03571058.2		96,332103,878
nssv17972659RemappedPerfectNW_003571059.2:g.(
?_96332)_(103878_?
)del		GRCh38.p12Second PassNW_003571059.2Chr19|NW_0
03571059.2		96,332103,878
nssv17972659RemappedPerfectNW_003571060.1:g.(
?_96332)_(103878_?
)del		GRCh38.p12Second PassNW_003571060.1Chr19|NW_0
03571060.1		96,332103,878
nssv17973935RemappedPerfectNW_003571057.2:g.(
?_96332)_(103878_?
)dup		GRCh38.p12Second PassNW_003571057.2Chr19|NW_0
03571057.2		96,332103,878
nssv17973935RemappedPerfectNW_003571058.2:g.(
?_96332)_(103878_?
)dup		GRCh38.p12Second PassNW_003571058.2Chr19|NW_0
03571058.2		96,332103,878
nssv17973935RemappedPerfectNW_003571059.2:g.(
?_96332)_(103878_?
)dup		GRCh38.p12Second PassNW_003571059.2Chr19|NW_0
03571059.2		96,332103,878
nssv17973935RemappedPerfectNW_003571060.1:g.(
?_96332)_(103878_?
)dup		GRCh38.p12Second PassNW_003571060.1Chr19|NW_0
03571060.1		96,332103,878
nssv17972659RemappedPerfectNW_003571056.2:g.(
?_96332)_(103878_?
)del		GRCh38.p12Second PassNW_003571056.2Chr19|NW_0
03571056.2		96,332103,878
nssv17973935RemappedPerfectNW_003571056.2:g.(
?_96332)_(103878_?
)dup		GRCh38.p12Second PassNW_003571056.2Chr19|NW_0
03571056.2		96,332103,878
nssv17972659RemappedPerfectNW_003571055.2:g.(
?_96332)_(103878_?
)del		GRCh38.p12First PassNW_003571055.2Chr19|NW_0
03571055.2		96,332103,878
nssv17973935RemappedPerfectNW_003571055.2:g.(
?_96332)_(103878_?
)dup		GRCh38.p12First PassNW_003571055.2Chr19|NW_0
03571055.2		96,332103,878
nssv17972659RemappedPerfectNW_003571054.1:g.(
?_96332)_(103878_?
)del		GRCh38.p12Second PassNW_003571054.1Chr19|NW_0
03571054.1		96,332103,878
nssv17973935RemappedPerfectNW_003571054.1:g.(
?_96332)_(103878_?
)dup		GRCh38.p12Second PassNW_003571054.1Chr19|NW_0
03571054.1		96,332103,878
nssv17972659RemappedGoodNC_000019.10:g.(?_
54121840)_(5412939
0_?)del		GRCh38.p12Second PassNC_000019.10Chr1954,121,84054,129,390
nssv17973935RemappedGoodNC_000019.10:g.(?_
54121840)_(5412939
0_?)dup		GRCh38.p12Second PassNC_000019.10Chr1954,121,84054,129,390
nssv17972659Submitted genomicNC_000019.9:g.(?_5
4625219)_(54632765
_?)del		GRCh37 (hg19)NC_000019.9Chr1954,625,21954,632,765
nssv17973935Submitted genomicNC_000019.9:g.(?_5
4625219)_(54632765
_?)dup		GRCh37 (hg19)NC_000019.9Chr1954,625,21954,632,765

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar ID
nssv17972659GRCh37: NC_000019.9:g.(?_54625219)_(54632765_?)deldeletiongermlinenot providedPathogenicClinVarRCV001982933.3, VCV001459907.4
nssv17973935GRCh37: NC_000019.9:g.(?_54625219)_(54632765_?)dupduplicationgermlinenot providedLikely pathogenicClinVarRCV002046081.5, VCV001520467.5

No genotype data were submitted for this variant

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