A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5461165



Internal ID239126
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 StatusM
Merged Variants
Supporting Variantsnssv16966911
Samples
Known GenesGFM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5461165
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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