A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17416568



Internal ID22474438
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196948965..196948965hg38UCSC Ensembl
chr3:196675836..196675836hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38103
hg19103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5967335
Supporting Variants
Samples
Known GenesPIGZ
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17416568
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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