A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18085754



Internal ID20652794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:216055501..216057700hg38UCSC Ensembl
chr2:216920224..216922423hg19UCSC Ensembl
Cytoband2q35
Allele length
AssemblyAllele length
hg382200
hg192200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6353389
Supporting Variants
Samples
Known GenesPECR
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18085754
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00069


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