A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17354986



Internal ID22580655
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:150348460..150348460hg38UCSC Ensembl
chr1:150320936..150320936hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5950287
Supporting Variants
Samples
Known GenesPRPF3
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17354986
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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