A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18195963



Internal ID20763003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24241995..24275794hg38UCSC Ensembl
chr14:24711201..24745000hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3833800
hg1933800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6478509
Supporting Variants
Samples
Known GenesRABGGTA, TGM1, TINF2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18195963
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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