A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040553



Internal ID18783084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:52291976..52368660hg38UCSC Ensembl
Innerchr12:52685760..52762444hg19UCSC Ensembl
Innerchr12:50972027..51048711hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3876685
hg1976685
hg1876685
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1503n100
Supporting Variantsnssv3523542
Samples
Known GenesKRT83, 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)nsv1040553
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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