A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17359176



Internal ID22584845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:200578854..200579368hg38UCSC Ensembl
chr1:200547982..200548496hg19UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38515
hg19515
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5868957
Supporting Variants
Samples
Known GenesKIF14
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17359176
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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