A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5483347



Internal ID260785
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:71902048..71902151hg38UCSC Ensembl
chr9:74516964..74517067hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38104
hg19104
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17024272
Samples
Known GenesABHD17B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5483347
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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