A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202394



Internal ID20769434
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234692001..234831700hg38UCSC Ensembl
chr1:234827748..234967447hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38139700
hg19139700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6323480
Supporting Variants
Samples
Known GenesLINC01132
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202394
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.88702


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