A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17723284



Internal ID146950
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:38852874..38930874hg38UCSC Ensembl
chr19:39343514..39421514hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3878001
hg1978001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6144358
Supporting Variants
Samples
Known GenesLOC643669, MRPS12, NFKBIB, RINL, SARS2, SIRT2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17723284
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002655


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