A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6463436



Internal ID21120989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102032838..102033299hg38UCSC Ensembl
chr12:102426616..102427077hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38462
hg19462
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17996738
Samples
Known GenesCCDC53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6463436
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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