A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16923675



Internal ID16548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:201166451..201166462hg38UCSC Ensembl
chr2:202031174..202031185hg19UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5534211
Supporting Variants
Samples
Known GenesCFLAR
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16923675
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000781


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