A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966911



Internal ID45272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74721390..74721593hg38UCSC Ensembl
chr5:74017215..74017418hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5461165
Supporting Variants
Samples
Known GenesGFM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966911
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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