A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16964540



Internal ID43663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:41252348..41574980hg38UCSC Ensembl
chr5:41252450..41575082hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg38322633
hg19322633
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461608
Supporting Variants
Samples
Known GenesC6, PLCXD3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16964540
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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