A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv689968



Internal ID15079934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:21425625..21431775hg38UCSC Ensembl
Innerchr12:21578559..21584709hg19UCSC Ensembl
Innerchr12:21469826..21475976hg18UCSC Ensembl
Innerchr12:21469826..21475976hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg386151
hg196151
hg186151
hg176151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv519603
Supporting Variants
Samples
Known Genes
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv689968
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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