A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6489323



Internal ID21146876
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:44947230..44948137hg38UCSC Ensembl
chr13:45521365..45522272hg19UCSC Ensembl
Cytoband13q14.12
Allele length
AssemblyAllele length
hg38908
hg19908
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178956
Samples
Known GenesNUFIP1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6489323
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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