A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16914565



Internal ID10454
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:64951445..64951496hg38UCSC Ensembl
chr2:65178579..65178630hg19UCSC Ensembl
Cytoband2p14
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556425
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16914565
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002966


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