A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv686292



Internal ID15076258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:14166915..14187630hg38UCSC Ensembl
Innerchr19:14277727..14298442hg19UCSC Ensembl
Innerchr19:14138727..14159442hg18UCSC Ensembl
Innerchr19:14138727..14159442hg17UCSC Ensembl
Cytoband19p13.12
Allele length
AssemblyAllele length
hg3820716
hg1920716
hg1820716
hg1720716
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv517436
Supporting Variants
Samples
Known GenesLOC100507373, LPHN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv686292
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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