A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5439561



Internal ID218096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:239765760..239771384hg38UCSC Ensembl
chr2:240687454..240693078hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg385625
hg195625
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16925229
Samples
Known GenesLOC150935
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5439561
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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