A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16968295



Internal ID46182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:65577292..65577418hg38UCSC Ensembl
chr5:64873119..64873245hg19UCSC Ensembl
Cytoband5q12.3
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5457563
Supporting Variants
Samples
Known GenesPPWD1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16968295
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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