A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202739



Internal ID20769779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228733801..228738000hg38UCSC Ensembl
chr1:228869548..228873747hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384200
hg194200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6318888
Supporting Variants
Samples
Known GenesRHOU
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202739
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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