A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202381



Internal ID20769421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:233901601..233909800hg38UCSC Ensembl
chr1:234037347..234045546hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg388200
hg198200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6316485
Supporting Variants
Samples
Known GenesSLC35F3
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202381
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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