A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17364618



Internal ID22590287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:71186000..71186107hg38UCSC Ensembl
chr11:70897046..70897153hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38108
hg19108
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5923189
Supporting Variants
Samples
Known GenesSHANK2
MethodSequencing
Analysis
Platform
Comments
ReferenceAlmarri_et_al_2020
Pubmed ID32531199
Accession Number(s)nssv17364618
Frequency
Sample Size914
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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