A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18208994



Internal ID20776034
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:240519347..240575108hg38UCSC Ensembl
chr2:241458764..241514525hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg3855762
hg1955762
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6348436
Supporting Variants
Samples
Known GenesANKMY1, DUSP28, RNPEPL1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18208994
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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