A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5555957



Internal ID329106
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:74754422..74754457hg38UCSC Ensembl
chr5:74050247..74050282hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg38541
hg19541
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16966916
Samples
Known GenesGFM2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5555957
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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