A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16912896



Internal ID9342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:58443619..59262809hg38UCSC Ensembl
chr2:58670754..59489944hg19UCSC Ensembl
Cytoband2p16.1
Allele length
AssemblyAllele length
hg38819191
hg19819191
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5447965
Supporting Variants
Samples
Known GenesLINC01122
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16912896
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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