A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17593284



Internal ID21785327
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70951429..70951542hg38UCSC Ensembl
chr11:70797536..70797649hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38114
hg19114
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv6033386
Supporting Variants
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceWu_et_al_2021
Pubmed ID34764282
Accession Number(s)nssv17593284
Frequency
Sample Size405
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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