A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17699953



Internal ID123619
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:24683203..24683254hg38UCSC Ensembl
chr15:24928350..24928401hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg38196
hg19196
Variant TypeCNV alu insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5431214
Supporting Variants
Samples
Known GenesNPAP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17699953
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000468


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