A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18218550



Internal ID20785590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:38198435..38308758hg38UCSC Ensembl
chr8:38055953..38166276hg19UCSC Ensembl
Cytoband8p11.23
Allele length
AssemblyAllele length
hg38110324
hg19110324
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6427217
Supporting Variants
Samples
Known GenesBAG4, DDHD2, PPAPDC1B, WHSC1L1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18218550
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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