A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6495050



Internal ID21152603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:52156401..52160000hg38UCSC Ensembl
chr13:52730536..52734135hg19UCSC Ensembl
Cytoband13q14.3
Allele length
AssemblyAllele length
hg383600
hg193600
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192967
Samples
Known GenesNEK3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6495050
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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