A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv381



Internal ID15201770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:70850842..70884302hg38UCSC Ensembl
Outerchr11:70696947..70730407hg19UCSC Ensembl
Outerchr11:70374595..70408055hg18UCSC Ensembl
Outerchr11:70374595..70408055hg17UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg385978
hg195978
hg185978
hg175978
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8932
SamplesNA12156
Known GenesMIR3664, SHANK2, SHANK2-AS3
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
PlatformCapillary
Comments
ReferenceKidd_et_al_2008
Pubmed ID18451855
Accession Number(s)nsv381
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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