A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5497696



Internal ID274721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49256147..49257488hg38UCSC Ensembl
chr13:49830283..49831624hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381342
hg191342
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17687623
Samples
Known GenesCDADC1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5497696
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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