A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6332826



Internal ID20866001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:119386345..119599790hg38UCSC Ensembl
chr1:119928968..120142413hg19UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg38213446
hg19213446
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18200365
Samples
Known GenesHAO2, HSD3B1, HSD3B2, HSD3BP4, LINC00622
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6332826
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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