A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16934548



Internal ID23764
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:56008282..56008333hg38UCSC Ensembl
chr3:56042310..56042361hg19UCSC Ensembl
Cytoband3p14.3
Allele length
AssemblyAllele length
hg38281
hg19281
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5396496
Supporting Variants
Samples
Known GenesERC2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16934548
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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