A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17384005



Internal ID22441875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:45205075..45209823hg38UCSC Ensembl
chr17:43282442..43287190hg19UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg384749
hg194749
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5933193
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17384005
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.004


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