A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18209847



Internal ID20776888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:49207052..49589876hg38UCSC Ensembl
chr2:49434191..49817014hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38382825
hg19382824
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6351837
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18209847
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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