A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13701099



Internal ID21222927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:118864065..118864065hg38UCSC Ensembl
chr5:118199760..118199760hg19UCSC Ensembl
Cytoband5q23.1
Allele length
AssemblyAllele length
hg382453
hg192453
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2811076
Supporting Variants
Samples
Known GenesDTWD2
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13701099
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.225806


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