A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202767



Internal ID20769807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230641001..230645400hg38UCSC Ensembl
chr1:230776747..230781146hg19UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg384400
hg194400
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6328308
Supporting Variants
Samples
Known GenesCOG2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202767
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.0002


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