A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6532945



Internal ID20906306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:59949501..59950500hg38UCSC Ensembl
chr17:58026862..58027861hg19UCSC Ensembl
Cytoband17q23.1
Allele length
AssemblyAllele length
hg381000
hg191000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036520
Samples
Known GenesRPS6KB1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6532945
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