A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18199254



Internal ID20766294
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:11024617..11030914hg38UCSC Ensembl
chr1:11084674..11090971hg19UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg386298
hg196298
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6322118
Supporting Variants
Samples
Known GenesMASP2, TARDBP
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18199254
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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