A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16906969



Internal ID5429
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:94913492..94913527hg38UCSC Ensembl
chr1:95379048..95379083hg19UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg38511
hg19511
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5559864
Supporting Variants
Samples
Known GenesCNN3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16906969
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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