A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343067



Internal ID21000620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240861583..240892863hg38UCSC Ensembl
chr2:241801000..241832280hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3831281
hg1931281
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18084566
Samples
Known GenesAGXT, C2orf54
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343067
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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