A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202393



Internal ID20769433
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234680601..234831600hg38UCSC Ensembl
chr1:234816347..234967347hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38151000
hg19151001
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6321323
Supporting Variants
Samples
Known GenesLINC01132
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202393
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.73496


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