A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16266083



Internal ID20475301
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70746321..70746418hg38UCSC Ensembl
chr11:70592426..70592523hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3898
hg1998
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv4742495
Supporting Variants
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceQuan_et_al_2021
Pubmed ID34034800
Accession Number(s)nssv16266083
Frequency
Sample Size25
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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