A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723291



Internal ID146957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38904874..38912874hg38UCSC Ensembl
chr19:39395514..39403514hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg388001
hg198001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6145796
Supporting Variants
Samples
Known GenesLOC643669, NFKBIB
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723291
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.009582


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