A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17992627



Internal ID20559667
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70545438..70547591hg38UCSC Ensembl
chr11:70391543..70393696hg19UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg382154
hg192154
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6462891
Supporting Variants
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nssv17992627
Frequency
Sample Size19652
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.00013


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