A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180499



Internal ID20747539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:49844954..49846566hg38UCSC Ensembl
chr13:50419090..50420702hg19UCSC Ensembl
Cytoband13q14.2
Allele length
AssemblyAllele length
hg381613
hg191613
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6488352
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180499
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0001


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