A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6494404



Internal ID21151957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123234557..123239564hg38UCSC Ensembl
chr12:123719104..123724111hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385008
hg195008
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18196548
Samples
Known GenesC12orf65
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6494404
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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