A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16966799



Internal ID45188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:73941809..73941860hg38UCSC Ensembl
chr5:73237634..73237685hg19UCSC Ensembl
Cytoband5q13.2
Allele length
AssemblyAllele length
hg38280
hg19280
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5395206
Supporting Variants
Samples
Known GenesARHGEF28
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16966799
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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