A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6417514



Internal ID21075067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:47906560..47910409hg38UCSC Ensembl
chr8:48819120..48822969hg19UCSC Ensembl
Cytoband8q11.21
Allele length
AssemblyAllele length
hg383850
hg193850
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18167707
Samples
Known GenesPRKDC
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6417514
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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