A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523590



Internal ID18475185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52444922..52504209hg38UCSC Ensembl
Innerchr12:52838706..52897993hg19UCSC Ensembl
Innerchr12:51124973..51184260hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3859288
hg1959288
hg1859288
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1035936
Supporting Variants
Samples
Known GenesKRT6A, KRT6B, KRT6C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3523590
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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