A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17010654



Internal ID74729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38203441..38208588hg38UCSC Ensembl
chr8:38060959..38066106hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg385148
hg195148
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6142001
Supporting Variants
Samples
Known GenesBAG4
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17010654
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000312


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