A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6333748



Internal ID20866928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:68493701..68499000hg38UCSC Ensembl
chr1:68959384..68964683hg19UCSC Ensembl
Cytoband1p31.2
Allele length
AssemblyAllele length
hg385300
hg195300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18204322
Samples
Known GenesDEPDC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6333748
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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