A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6326343



Internal ID20859478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:196799230..196924144hg38UCSC Ensembl
chr1:196768360..196893274hg19UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38124915
hg19124915
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv492n223
Supporting Variantsnssv18202020
Samples
Known GenesCFHR1, CFHR4
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6326343
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