A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6486534



Internal ID21144087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113297906..113306999hg38UCSC Ensembl
chr12:113735711..113744804hg19UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg389094
hg199094
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18178157
Samples
Known GenesSLC8B1, TPCN1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6486534
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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