A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6485577



Internal ID21143130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113855868..113863237hg38UCSC Ensembl
chr12:114293673..114301042hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg387370
hg197370
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18185991
Samples
Known GenesRBM19
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6485577
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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