A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18180705



Internal ID20747745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:11546002..11581318hg38UCSC Ensembl
chr17:11449319..11484635hg19UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3835317
hg1935317
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6497866
Supporting Variants
Samples
Known GenesSHISA6
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv18180705
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0


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