A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5908358



Internal ID22683568
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71212858..71212923hg38UCSC Ensembl
chr11:70923904..70923969hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3866
hg1966
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17360938
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nsv5908358
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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