A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18204366



Internal ID20771406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:72280801..72305300hg38UCSC Ensembl
chr1:72746484..72770983hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3824500
hg1924500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6332241
Supporting Variants
Samples
Known GenesNEGR1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18204366
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.00015


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer