A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692309



Internal ID15428961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:201243708..201248020hg38UCSC Ensembl
Innerchr1:201212836..201217148hg19UCSC Ensembl
Innerchr1:199479459..199483771hg18UCSC Ensembl
Innerchr1:197944493..197948805hg17UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg384313
hg194313
hg184313
hg174313
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv515827
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692309
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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