A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17371007



Internal ID22596676
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:39388931..39393762hg38UCSC Ensembl
chr13:39963068..39967899hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg384832
hg194832
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5930000
Supporting Variants
Samples
Known GenesLHFP
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17371007
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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