A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6343364



Internal ID21000917
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:218797252..218806502hg38UCSC Ensembl
chr2:219661975..219671225hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg389251
hg199251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18085486
Samples
Known GenesCYP27A1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6343364
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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