A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5433001



Internal ID211729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:93216994..93235681hg38UCSC Ensembl
chr1:93682551..93701238hg19UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3818688
hg1918688
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv16906687
Samples
Known GenesCCDC18
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5433001
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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