A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505959



Internal ID282719
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:31135289..31135388hg38UCSC Ensembl
chr13:31709426..31709525hg19UCSC Ensembl
Cytoband13q12.3
Allele length
AssemblyAllele length
hg38100
hg19100
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17686639
Samples
Known GenesHSPH1
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505959
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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