A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516938



Internal ID8411213
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52283925..52394228hg38UCSC Ensembl
Innerchr12:52677709..52788012hg19UCSC Ensembl
Innerchr12:50963976..51074279hg18UCSC Ensembl
Innerchr12:50963976..51074279hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38110304
hg19110304
hg18110304
hg17110304
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv675578, nssv655061, nssv693628, nssv655081, nssv703104, nssv659892, nssv695650
Samples
Known GenesKRT81, KRT82, KRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516938
Frequency
Sample Size2026
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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