A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17448929



Internal ID22506799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:102812832..102821077hg38UCSC Ensembl
chr8:103825060..103833305hg19UCSC Ensembl
Cytoband8q22.3
Allele length
AssemblyAllele length
hg388246
hg198246
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5924962
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17448929
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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