A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6473811



Internal ID21131364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2452183..2456030hg38UCSC Ensembl
chr12:2561349..2565196hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg383848
hg193848
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17999791
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6473811
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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