A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv622366



Internal ID15817591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70927276..71177655hg38UCSC Ensembl
Outerchr11:70773381..70888701hg19UCSC Ensembl
Outerchr11:70451029..70566349hg18UCSC Ensembl
Outerchr11:70451029..70566349hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg38250380
hg19115321
hg18115321
hg17115321
Variant TypeOTHER complex
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv510582
Supporting Variants
SamplesNA10860
Known GenesSHANK2
MethodOptical mapping
AnalysisSingle-molecule optical maps were assembled into genome-wide consensus maps. These consensus maps were compared to a restriction map generated from the NCBI b35 human genome reference sequence.
PlatformOptical Mapping
Comments
ReferenceTeague_et_al_2010
Pubmed ID20534489
Accession Number(s)nssv622366
Frequency
Sample Size4
Observed Gain0
Observed Loss0
Observed Complex1
Frequencyn/a


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