A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18220430



Internal ID20787470
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:11531738..11611041hg38UCSC Ensembl
chr8:11389247..11468550hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3879304
hg1979304
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6423508
Supporting Variants
Samples
Known GenesBLK, LINC00208
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18220430
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00018


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