A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17704462



Internal ID128128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:80715081..80715409hg38UCSC Ensembl
chr15:81007422..81007750hg19UCSC Ensembl
Cytoband15q25.1
Allele length
AssemblyAllele length
hg38329
hg19329
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5524582
Supporting Variants
Samples
Known GenesABHD17C
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17704462
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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