A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17040713



Internal ID94851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:116954572..116956714hg38UCSC Ensembl
chr10:118714083..118716225hg19UCSC Ensembl
Cytoband10q25.3
Allele length
AssemblyAllele length
hg382143
hg192143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5504253
Supporting Variants
Samples
Known GenesKIAA1598
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17040713
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000156


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