A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5507134



Internal ID283863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31054684..31055189hg38UCSC Ensembl
chr13:31628821..31629326hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38506
hg19506
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686631
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5507134
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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