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nsv3915072

  • Variant Calls:1
  • Validation:Not tested
  • Clinical Assertions: Yes
  • Region Size:5,593,542
  • Description:GRCh38/hg38 5q14.3(chr5:86743723-92337264)x1 AND See cases

Genome View

Select assembly:
Overlapping variant regions from other studies: 11678 SVs from 108 studies. See in: genome view    
Submitted genomic86,743,723-92,337,264Question Mark
Overlapping variant regions from other studies: 11679 SVs from 108 studies. See in: genome view    
Submitted genomic86,039,540-91,633,081Question Mark
Overlapping variant regions from other studies: 2873 SVs from 32 studies. See in: genome view    
Submitted genomic86,075,296-91,668,837Question Mark

Variant Region Placement Information

Variant Region IDPlacement TypeAssemblyAssembly UnitSequence IDChrInner StartInner Stop
nsv3915072Submitted genomicGRCh38 (hg38)Primary AssemblyNC_000005.10Chr586,743,72392,337,264
nsv3915072Submitted genomicGRCh37 (hg19)Primary AssemblyNC_000005.9Chr586,039,54091,633,081
nsv3915072Submitted genomicNCBI36 (hg18)Primary AssemblyNC_000005.8Chr586,075,29691,668,837

Variant Call Information

Variant Call IDTypeMethodAnalysisSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15120741copy number lossMultipleMultipleSee casesPathogenicClinVarRCV000053477.5, VCV000059630.11

Variant Call Placement Information

Variant Call IDPlacement TypeHGVSAssemblySequence IDChrInner StartInner Stop
nssv15120741Submitted genomicNC_000005.10:g.(?_
86743723)_(9233726
4_?)del
GRCh38 (hg38)NC_000005.10Chr586,743,72392,337,264
nssv15120741Submitted genomicNC_000005.9:g.(?_8
6039540)_(91633081
_?)del
GRCh37 (hg19)NC_000005.9Chr586,039,54091,633,081
nssv15120741Submitted genomicNC_000005.8:g.(?_8
6075296)_(91668837
_?)del
NCBI36 (hg18)NC_000005.8Chr586,075,29691,668,837

No validation data were submitted for this variant

Clinical Assertions

Variant Call IDHGVSTypeAllele OriginSubject PhenotypeClinical InterpretationSource of InterpretationClinVar IDCopy number
nssv15120741GRCh37: NC_000005.9:g.(?_86039540)_(91633081_?)del, GRCh38: NC_000005.10:g.(?_86743723)_(92337264_?)del, NCBI36: NC_000005.8:g.(?_86075296)_(91668837_?)delcopy number lossde novoSee casesPathogenicClinVarRCV000053477.5, VCV000059630.11

No genotype data were submitted for this variant

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