A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv13699283



Internal ID21221131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:43665714..43665714hg38UCSC Ensembl
chr19:44169866..44169866hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38488
hg19488
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv2799147
Supporting Variants
Samples
Known GenesPLAUR
MethodSequencing
Analysis
Platform
Comments
ReferenceHuddleston_et_al_2016
Pubmed ID27895111
Accession Number(s)nssv13699283
Frequency
Sample Size2
Observed Gain1
Observed Loss0
Observed Complex0
Frequency1


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