A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16945917



Internal ID31285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:192839925..192839976hg38UCSC Ensembl
chr3:192557714..192557765hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5402663
Supporting Variants
Samples
Known GenesMB21D2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16945917
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.008586


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