A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966918



Internal ID45275
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74759267..74759302hg38UCSC Ensembl
chr5:74055092..74055127hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3864
hg1964
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5543079
Supporting Variants
Samples
Known GenesGFM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966918
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.029816


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