A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17011846



Internal ID75563
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:67634003..67641449hg38UCSC Ensembl
chr8:68546238..68553684hg19UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg387447
hg197447
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5479924
Supporting Variants
Samples
Known GenesCPA6
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17011846
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.020924


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