A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6484412



Internal ID21141965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:59821701..59978200hg38UCSC Ensembl
chr13:60395835..60552334hg19UCSC Ensembl
Cytoband13q21.2
Allele length
AssemblyAllele length
hg38156500
hg19156500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18191325
Samples
Known GenesDIAPH3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6484412
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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