A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343113



Internal ID21000666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240670701..240799700hg38UCSC Ensembl
chr2:241610118..241739117hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38129000
hg19129000
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18209000
Samples
Known GenesAQP12A, AQP12B, KIF1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343113
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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