A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5492027



Internal ID269252
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:71871668..71871735hg38UCSC Ensembl
chr9:74486584..74486651hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg3868
hg1968
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17024269
Samples
Known GenesABHD17B
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5492027
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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