A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910300



Internal ID7639
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:24331987..24335979hg38UCSC Ensembl
chr2:24554856..24558848hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg383993
hg193993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5446817
Supporting Variants
Samples
Known GenesITSN2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910300
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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