A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18212614



Internal ID20779654
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:104063601..104068800hg38UCSC Ensembl
chr5:103399302..103404501hg19UCSC Ensembl
Cytoband5q21.2
Allele length
AssemblyAllele length
hg385200
hg195200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6414459
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18212614
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.06007


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