A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13683909



Internal ID21205769
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43507277..43507277hg38UCSC Ensembl
chr19:44011429..44011429hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2799890
Supporting Variants
Samples
Known GenesETHE1
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13683909
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.333333


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