A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16917646



Internal ID12502
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:120300938..120310037hg38UCSC Ensembl
chr2:121058514..121067613hg19UCSC Ensembl
Cytoband2q14.2
Allele length
AssemblyAllele length
hg389100
hg199100
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447815
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16917646
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000468


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