A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16928139



Internal ID19462
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:214785028..214786285hg38UCSC Ensembl
chr2:215649752..215651009hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg381258
hg191258
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5452862
Supporting Variants
Samples
Known GenesBARD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16928139
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.004995


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