A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17075678



Internal ID21444698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70951483..70951593hg38UCSC Ensembl
chr11:70797590..70797737hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38111
hg19148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5596470
Supporting Variants
SamplesHG00732
Known GenesSHANK2
MethodMerging
Analysis
PlatformSee merged experiments
Comments
ReferenceEbert_et_al_2021
Pubmed ID33632895
Accession Number(s)nssv17075678
Frequency
Sample Size35
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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