A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv694692



Internal ID15084658
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8833783..8839374hg38UCSC Ensembl
Innerchr12:8986379..8991970hg19UCSC Ensembl
Innerchr12:8877646..8883237hg18UCSC Ensembl
Innerchr12:8877646..8883237hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg385592
hg195592
hg185592
hg175592
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv521922
Supporting Variants
Samples
Known GenesA2ML1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv694692
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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