A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15195056



Internal ID21333959
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23280710..23280710hg38UCSC Ensembl
chr14:23749919..23749919hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg38542
hg19542
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3933155
Supporting Variants
SamplesHG002
Known GenesHOMEZ
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15195056
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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