A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712487



Internal ID19010768
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52452168..52492330hg38UCSC Ensembl
Innerchr12:52845952..52886114hg19UCSC Ensembl
Innerchr12:51132219..51172381hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3840163
hg1940163
hg1840163
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039888
Supporting Variants
Samples
Known GenesKRT6A, KRT6C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3712487
Frequency
Sample Size11257
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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