A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18187605



Internal ID20754645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:70906701..70909800hg38UCSC Ensembl
chr14:71373418..71376517hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg383100
hg193100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6492000
Supporting Variants
Samples
Known GenesPCNX
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18187605
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00026


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