A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5916092



Internal ID22691311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:95442288..95443984hg38UCSC Ensembl
chr9:98204570..98206266hg19UCSC Ensembl
Cytoband9q22.32
Allele length
AssemblyAllele length
hg381697
hg191697
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17435042
Samples
Known GenesPTCH1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5916092
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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