A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975791



Internal ID51256
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:151775587..151775638hg38UCSC Ensembl
chr5:151155148..151155199hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg381240
hg191240
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5556669
Supporting Variants
Samples
Known GenesG3BP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975791
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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