A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6483230



Internal ID21140783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:46150701..46242400hg38UCSC Ensembl
chr13:46724836..46816535hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg3891700
hg1991700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18179913
Samples
Known GenesLCP1, LRRC63
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6483230
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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