A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16908939



Internal ID6748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:4997285..4999500hg38UCSC Ensembl
chr2:5137418..5139633hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg382216
hg192216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5437333
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16908939
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.012176


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