A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6462229



Internal ID21119782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52059204..52321021hg38UCSC Ensembl
chr12:52452988..52714805hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38261818
hg19261818
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192538
Samples
Known GenesC12orf44, C12orf80, KRT7, KRT80, KRT81, KRT83, KRT86, LINC00592, NR4A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6462229
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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