A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6491942



Internal ID21149495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:24854339..25087823hg38UCSC Ensembl
chr13:25428477..25661961hg19UCSC Ensembl
Cytoband13q12.12
Allele length
AssemblyAllele length
hg38233485
hg19233485
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192301
Samples
Known GenesCENPJ, RNF17, TPTE2P1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6491942
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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