A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16911614



Internal ID8511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:42888290..42891366hg38UCSC Ensembl
chr2:43115430..43118506hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg383077
hg193077
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447378
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16911614
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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