A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16909980



Internal ID7430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10164145..10164196hg38UCSC Ensembl
chr2:10304271..10304322hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg38657
hg19657
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5555595
Supporting Variants
Samples
Known GenesC2orf48
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16909980
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001405


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