A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6036144



Internal ID21945487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:2671181..2671273hg38UCSC Ensembl
chr12:2780347..2780439hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg3893
hg1993
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17598323
Samples
Known GenesCACNA1C
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nsv6036144
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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