A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011802



Internal ID75534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67172615..67173698hg38UCSC Ensembl
chr8:68084850..68085933hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg381084
hg191084
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5476908
Supporting Variants
Samples
Known GenesCSPP1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011802
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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