A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6420262



Internal ID21077815
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:73867372..74551522hg38UCSC Ensembl
chr8:74779607..75463757hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38684151
hg19684151
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18224148
Samples
Known GenesGDAP1, JPH1, LY96, MIR5681A, MIR5681B, TCEB1, TMEM70, UBE2W
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6420262
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