A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5512447



Internal ID288999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:66766106..66826553hg38UCSC Ensembl
chr13:67340238..67400685hg19UCSC Ensembl
Cytoband13q21.32
Allele length
AssemblyAllele length
hg3860448
hg1960448
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17692139
Samples
Known GenesPCDH9, PCDH9-AS2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5512447
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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