A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17430505



Internal ID22488375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:76218595..76218743hg38UCSC Ensembl
chr9:78833511..78833659hg19UCSC Ensembl
Cytoband9q21.13
Allele length
AssemblyAllele length
hg38149
hg19149
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5918550
Supporting Variants
Samples
Known GenesPCSK5
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17430505
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.003


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