A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16910302



Internal ID7641
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:25061359..25061742hg38UCSC Ensembl
chr2:25284228..25284611hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38384
hg19384
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5449988
Supporting Variants
Samples
Known GenesEFR3B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16910302
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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