A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16918258



Internal ID12929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:113464520..113464550hg38UCSC Ensembl
chr2:114222097..114222127hg19UCSC Ensembl
Cytoband2q13
Allele length
AssemblyAllele length
hg38317
hg19317
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5544448
Supporting Variants
Samples
Known GenesCBWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16918258
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.109714


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