A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18087002



Internal ID20654042
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:226477701..226481500hg38UCSC Ensembl
chr2:227342417..227346216hg19UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg383800
hg193800
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6345122
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18087002
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00669


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