A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv15194462



Internal ID21333360
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:71999674..71999674hg38UCSC Ensembl
chr14:72466391..72466391hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3934760
Supporting Variants
SamplesHG002
Known GenesRGS6
MethodSequencing
Analysis
Platform
Comments
ReferenceWenger_et_al_2019
Pubmed ID31406327
Accession Number(s)nssv15194462
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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