A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923613



Internal ID16513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:197028625..197031167hg38UCSC Ensembl
chr2:197893349..197895891hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg382543
hg192543
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5435382
Supporting Variants
Samples
Known GenesANKRD44
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923613
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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