A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6456191



Internal ID21113744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2089501..2164800hg38UCSC Ensembl
chr12:2198667..2273966hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3875300
hg1975300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18187173
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6456191
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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