A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16975724



Internal ID51215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:150751716..150751767hg38UCSC Ensembl
chr5:150131278..150131329hg19UCSC Ensembl
Cytoband5q33.1
Allele length
AssemblyAllele length
hg38278
hg19278
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5404710
Supporting Variants
Samples
Known GenesDCTN4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16975724
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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