A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482705



Internal ID21140258
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:48227301..48238600hg38UCSC Ensembl
chr13:48801437..48812736hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg3811300
hg1911300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1823n223
Supporting Variantsnssv18195226
Samples
Known GenesITM2B
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482705
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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