A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473819



Internal ID21131372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:52166503..52258794hg38UCSC Ensembl
chr12:52560287..52652578hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3892292
hg1992292
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192476
Samples
Known GenesC12orf80, KRT7, KRT80, LINC00592
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473819
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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