A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6482829



Internal ID21140382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49669538..49672898hg38UCSC Ensembl
chr13:50243674..50247034hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg383361
hg193361
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18009449
Samples
Known GenesEBPL
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6482829
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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