A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967132



Internal ID45406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:75595807..75601807hg38UCSC Ensembl
chr5:74891632..74897632hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg386001
hg196001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6141307
Supporting Variants
Samples
Known GenesPOLK
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967132
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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