A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326003



Internal ID20859137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111604401..111633100hg38UCSC Ensembl
chr1:112147023..112175722hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg3828700
hg1928700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv310n223
Supporting Variantsnssv18199266
Samples
Known GenesLOC100129269, RAP1A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326003
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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