A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18034660



Internal ID20601700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:17564314..17573241hg38UCSC Ensembl
chr17:17467628..17476555hg19UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg388928
hg198928
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6512080
Supporting Variants
Samples
Known GenesPEMT
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18034660
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0


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