A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16922323



Internal ID15640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:174903967..174909348hg38UCSC Ensembl
chr2:175768695..175774076hg19UCSC Ensembl
Cytoband2q31.1
Allele length
AssemblyAllele length
hg385382
hg195382
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5442392
Supporting Variants
Samples
Known GenesCHN1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16922323
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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