A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv692644



Internal ID15082610
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:11367487..11388976hg38UCSC Ensembl
Innerchr12:11520421..11541910hg19UCSC Ensembl
Innerchr12:11411688..11433177hg18UCSC Ensembl
Innerchr12:11411688..11433177hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3821490
hg1921490
hg1821490
hg1721490
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv516262
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv692644
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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