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nsv3916683

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:26,773,450
  • Description:GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 90352 SVs from 138 studies. See in: genome view    
Submitted genomic54,185-26,827,634Question Mark
Overlapping variant regions from other studies: 90396 SVs from 138 studies. See in: genome view    
Submitted genomic54,185-26,867,253Question Mark
Overlapping variant regions from other studies: 22862 SVs from 38 studies. See in: genome view    
Submitted genomic149,268-26,833,778Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3916683Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000007.14Chr754,18526,827,634
nsv3916683Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr754,18526,867,253
nsv3916683Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000007.12Chr7149,26826,833,778

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161072copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000136557.6, VCV000147357.23

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15161072Submitted genomicNC_000007.14:g.(?_
54185)_(26827634_?
)dup
GRCh38 (hg38)NC_000007.14Chr754,18526,827,634
nssv15161072Submitted genomicNC_000007.13:g.(?_
54185)_(26867253_?
)dup
GRCh37 (hg19)NC_000007.13Chr754,18526,867,253
nssv15161072Submitted genomicNC_000007.12:g.(?_
149268)_(26833778_
?)dup
NCBI36 (hg18)NC_000007.12Chr7149,26826,833,778

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15161072GRCh37: NC_000007.13:g.(?_54185)_(26867253_?)dup, GRCh38: NC_000007.14:g.(?_54185)_(26827634_?)dup, NCBI36: NC_000007.12:g.(?_149268)_(26833778_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000136557.6, VCV000147357.23

No genotype data were submitted for this variant

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