A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17698546



Internal ID122212
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:22823506..22823590hg38UCSC Ensembl
chr15:23049478..23049562hg19UCSC Ensembl
Cytoband15q11.2
Allele length
AssemblyAllele length
hg3885
hg1985
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501947
Supporting Variants
Samples
Known GenesNIPA1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17698546
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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