A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16976320



Internal ID51609
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:147941789..147958000hg38UCSC Ensembl
chr5:147321352..147337563hg19UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3816212
hg1916212
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5454931
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16976320
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00314


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