A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16970523



Internal ID47675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:144601456..144601507hg38UCSC Ensembl
chr6:144922592..144922643hg19UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg38244
hg19244
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5408179
Supporting Variants
Samples
Known GenesUTRN
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16970523
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003122


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