A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6475782



Internal ID21133335
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:42917980..43180847hg38UCSC Ensembl
chr13:43492116..43754983hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38262868
hg19262868
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180421
Samples
Known GenesDNAJC15, EPSTI1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6475782
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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