A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6493825



Internal ID21151378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:130933427..131183538hg38UCSC Ensembl
chr12:131417972..131668083hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38250112
hg19250112
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18193439
Samples
Known GenesGPR133, LOC116437
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6493825
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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