A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044427



Internal ID18786958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52291976..52393437hg38UCSC Ensembl
Innerchr12:52685760..52787221hg19UCSC Ensembl
Innerchr12:50972027..51073488hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38101462
hg19101462
hg18101462
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1503n100
Supporting Variantsnssv3523552, nssv3523551
Samples
Known GenesKRT83, KRT84, KRT85, KRT86
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1044427
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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