A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18202401



Internal ID20769441
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:234775401..234814600hg38UCSC Ensembl
chr1:234911148..234950347hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg3839200
hg1939200
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6317642
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18202401
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.75183


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