A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17996738



Internal ID20563779
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 StatusS
Merged Variantsnsv6463436
Supporting Variants
Samples
Known GenesCCDC53
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17996738
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00178


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