A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16967961



Internal ID45960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:84113206..84113803hg38UCSC Ensembl
chr5:83409024..83409621hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38598
hg19598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5460677
Supporting Variants
Samples
Known GenesEDIL3
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16967961
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000624


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