U.S. flag

An official website of the United States government

nsv3918979

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:43,866,803
  • Description:GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 131429 SVs from 146 studies. See in: genome view    
Submitted genomic115,459,015-159,325,817Question Mark
Overlapping variant regions from other studies: 131183 SVs from 146 studies. See in: genome view    
Submitted genomic115,099,069-159,118,507Question Mark
Overlapping variant regions from other studies: 34512 SVs from 40 studies. See in: genome view    
Submitted genomic114,886,305-158,811,268Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3918979Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000007.14Chr7115,459,015159,325,817
nsv3918979Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000007.13Chr7115,099,069159,118,507
nsv3918979Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000007.12Chr7114,886,305158,811,268

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147531copy number gainMultipleMultipleSee casesPathogenicClinVarRCV000141413.4, VCV000152912.13

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15147531Submitted genomicNC_000007.14:g.(?_
115459015)_(159325
817_?)dup
GRCh38 (hg38)NC_000007.14Chr7115,459,015159,325,817
nssv15147531Submitted genomicNC_000007.13:g.(?_
115099069)_(159118
507_?)dup
GRCh37 (hg19)NC_000007.13Chr7115,099,069159,118,507
nssv15147531Submitted genomicNC_000007.12:g.(?_
114886305)_(158811
268_?)dup
NCBI36 (hg18)NC_000007.12Chr7114,886,305158,811,268

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15147531GRCh37: NC_000007.13:g.(?_115099069)_(159118507_?)dup, GRCh38: NC_000007.14:g.(?_115459015)_(159325817_?)dup, NCBI36: NC_000007.12:g.(?_114886305)_(158811268_?)dupcopy number gainnot providedSee casesPathogenicClinVarRCV000141413.4, VCV000152912.13

No genotype data were submitted for this variant

Support Center