A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6474727



Internal ID21132280
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:11030834..11133832hg38UCSC Ensembl
chr12:11183433..11286431hg19UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg38102999
hg19102999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18192897
Samples
Known GenesPRH1-PRR4, TAS2R30, TAS2R31, TAS2R43, TAS2R46
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6474727
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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