A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6509585



Internal ID20882896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:32148214..32154820hg38UCSC Ensembl
chr17:30475233..30481839hg19UCSC Ensembl
Cytoband17q11.2
Allele length
AssemblyAllele length
hg386607
hg196607
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18034936
Samples
Known GenesARGFXP2, RHOT1
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6509585
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