A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16915425



Internal ID11025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:73117322..73117373hg38UCSC Ensembl
chr2:73344450..73344501hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5563691
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16915425
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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