A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv462



Internal ID8516329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:102567940..102600626hg38UCSC Ensembl
Outerchr11:102438671..102471357hg19UCSC Ensembl
Outerchr11:101943881..101976567hg18UCSC Ensembl
Outerchr11:101943881..101976567hg17UCSC Ensembl
Cytoband11q22.2
Allele length
AssemblyAllele length
hg388306
hg198306
hg188306
hg178306
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1035
SamplesNA19240
Known GenesMMP20
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)nsv462
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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