A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17369343



Internal ID22595012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:246832423..246847180hg38UCSC Ensembl
chr1:246995725..247010482hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3814758
hg1914758
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5876442
Supporting Variants
Samples
Known GenesAHCTF1
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17369343
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.002


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