A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6518324



Internal ID20891685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:50111906..50113524hg38UCSC Ensembl
chr17:48189270..48190888hg19UCSC Ensembl
Cytoband17q21.33
Allele length
AssemblyAllele length
hg381619
hg191619
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18036157
Samples
Known GenesSAMD14
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6518324
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