A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv472



Internal ID15202771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:105587309..105616712hg38UCSC Ensembl
Outerchr11:105458036..105487439hg19UCSC Ensembl
Outerchr11:104963246..104992649hg18UCSC Ensembl
Outerchr11:104963246..104992649hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg3810021
hg1910021
hg1810021
hg1710021
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6482
SamplesNA12156
Known GenesGRIA4
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)nsv472
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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