A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483



Internal ID15549578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:110108937..110142430hg38UCSC Ensembl
Outerchr11:109979662..110013155hg19UCSC Ensembl
Outerchr11:109484872..109518365hg18UCSC Ensembl
Outerchr11:109484872..109518365hg17UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg387510
hg197510
hg187510
hg177510
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1038
SamplesNA19240
Known GenesZC3H12C
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)nsv483
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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