A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6429340



Internal ID21086893
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:19038818..19498235hg38UCSC Ensembl
chr8:18896328..19355746hg19UCSC Ensembl
Cytoband8p21.3
Allele length
AssemblyAllele length
hg38459418
hg19459419
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7292n223
Supporting Variantsnssv18228673
Samples
Known GenesCSGALNACT1, LOC100128993, SH2D4A
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6429340
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