A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17047727



Internal ID99686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70566014..70566087hg38UCSC Ensembl
chr11:70412119..70412192hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3874
hg1974
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5496966
Supporting Variants
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv17047727
Frequency
Sample Size3202
Observed Gain0
Observed Loss1
Observed Complex0
Frequency0.000312


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