A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493678



Internal ID21151231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:36818501..36820300hg38UCSC Ensembl
chr13:37392638..37394437hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg381800
hg191800
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193193
Samples
Known GenesRFXAP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493678
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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