A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17690396



Internal ID114062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102017200..102017864hg38UCSC Ensembl
chr12:102410978..102411642hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38665
hg19665
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5501382
Supporting Variants
Samples
Known GenesCCDC53
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17690396
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000937


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