A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204313



Internal ID20771353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:67470320..67477229hg38UCSC Ensembl
chr1:67936003..67942912hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg386910
hg196910
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6330063
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204313
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00041


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