A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv301



Internal ID15547576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:43985106..44010464hg38UCSC Ensembl
Outerchr11:44006656..44032014hg19UCSC Ensembl
Outerchr11:43963232..43988590hg18UCSC Ensembl
Outerchr11:43963232..43988590hg17UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg386423
hg196423
hg186423
hg176423
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1007
SamplesNA19240
Known Genes
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)nsv301
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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