A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18179556



Internal ID20746596
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:31206601..31208500hg38UCSC Ensembl
chr14:31675807..31677706hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg381900
hg191900
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6482461
Supporting Variants
Samples
Known GenesHECTD1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18179556
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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