A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493309



Internal ID21150862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:97247901..97254400hg38UCSC Ensembl
chr13:97900155..97906654hg19UCSC Ensembl
Cytoband13q32.1
Allele length
AssemblyAllele length
hg386500
hg196500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18180257
Samples
Known GenesMBNL2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493309
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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