A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16925229



Internal ID17568
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 StatusS
Merged Variantsnsv5439561
Supporting Variants
Samples
Known GenesLOC150935
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16925229
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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