A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194823



Internal ID21333721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:34205682..34205682hg38UCSC Ensembl
chr14:34674888..34674888hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg38243
hg19243
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3945911
Supporting Variants
SamplesHG002
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194823
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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