A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17378255



Internal ID22436125
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:63288015..63550107hg38UCSC Ensembl
chr1:63753686..64015778hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg38262093
hg19262093
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5880186
Supporting Variants
Samples
Known GenesALG6, DLEU2L, EFCAB7, FOXD3, ITGB3BP, LINC00466, MIR6068
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17378255
Frequency
Sample Size914
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.001


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