A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv524862



Internal ID15452155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52470991..52489066hg38UCSC Ensembl
Innerchr12:52864775..52882850hg19UCSC Ensembl
Innerchr12:51151042..51169117hg18UCSC Ensembl
Innerchr12:51151042..51169117hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3818076
hg1918076
hg1818076
hg1718076
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv95n21
Supporting Variantsnssv700867
Samples
Known GenesKRT6A, KRT6C
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv524862
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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