A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17008294



Internal ID73161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11539713..11633717hg38UCSC Ensembl
chr8:11397222..11491226hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3894005
hg1994005
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5477034
Supporting Variants
Samples
Known GenesBLK, LINC00208
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17008294
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001093


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