A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv700517



Internal ID15090483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52691088..52693665hg38UCSC Ensembl
Innerchr12:53084872..53087449hg19UCSC Ensembl
Innerchr12:51371139..51373716hg18UCSC Ensembl
Innerchr12:51371139..51373716hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg382578
hg192578
hg182578
hg172578
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv524563
Supporting Variants
Samples
Known GenesKRT77
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv700517
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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