A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17017176



Internal ID79111
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125082765..125082850hg38UCSC Ensembl
chr8:126095007..126095092hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3886
hg1986
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476331
Supporting Variants
Samples
Known GenesKIAA0196
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17017176
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000781


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