A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5503091



Internal ID279935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:35416142..35424058hg38UCSC Ensembl
chr13:35990279..35998195hg19UCSC Ensembl
Cytoband13q13.3
Allele length
AssemblyAllele length
hg387917
hg197917
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686848
Samples
Known GenesNBEA
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5503091
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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