A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5505654



Internal ID282422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70927457..70927547hg38UCSC Ensembl
chr11:70773562..70773652hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3891
hg1991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17047743
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nsv5505654
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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