A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485278



Internal ID21142831
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:30222903..30223250hg38UCSC Ensembl
chr13:30797040..30797387hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18007893
Samples
Known GenesKATNAL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485278
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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