A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6608387



Internal ID20981458
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:146992301..146999800hg38UCSC Ensembl
chr6:147313437..147320936hg19UCSC Ensembl
Cytoband6q24.3
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18217067
Samples
Known GenesSTXBP5-AS1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6608387
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