A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202359



Internal ID20769399
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:231574349..231678764hg38UCSC Ensembl
chr1:231710095..231814510hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg38104416
hg19104416
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6333584
Supporting Variants
Samples
Known GenesDISC1, LINC00582, TSNAX-DISC1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202359
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00135


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