A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18089400



Internal ID20656440
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47376458..47378233hg38UCSC Ensembl
chr2:47603597..47605372hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg381776
hg191776
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6354531
Supporting Variants
Samples
Known GenesEPCAM, MIR559
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18089400
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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