A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14357787



Internal ID22210657
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71167970..71168323hg38UCSC Ensembl
chr11:70879016..70879369hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38354
hg19354
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3529688
Supporting Variants
SamplesHG00732
Known GenesSHANK2
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nssv14357787
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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