A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17357242



Internal ID22582911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:10779467..10795181hg38UCSC Ensembl
chr1:10839524..10855238hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg3815715
hg1915715
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5869959
Supporting Variants
Samples
Known GenesCASZ1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17357242
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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