A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6327935



Internal ID20861079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:228484301..228488800hg38UCSC Ensembl
chr1:228672002..228676501hg19UCSC Ensembl
Cytoband1q42.13
Allele length
AssemblyAllele length
hg384500
hg194500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18202729
Samples
Known GenesRNF187
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6327935
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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