A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv486



Internal ID15549611
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:110801138..110834557hg38UCSC Ensembl
Outerchr11:110671861..110705280hg19UCSC Ensembl
Outerchr11:110177071..110210490hg18UCSC Ensembl
Outerchr11:110177071..110210490hg17UCSC Ensembl
Cytoband11q23.1
Allele length
AssemblyAllele length
hg387578
hg197578
hg187578
hg177578
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1040
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)nsv486
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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