A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6334688



Internal ID20867875
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93162101..93183400hg38UCSC Ensembl
chr1:93627658..93648957hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3821300
hg1921300
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18203181
Samples
Known GenesCCDC18, TMED5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6334688
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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