A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv538



Internal ID15550183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:126808925..126837848hg38UCSC Ensembl
Outerchr11:126678820..126707743hg19UCSC Ensembl
Outerchr11:126184030..126212953hg18UCSC Ensembl
Outerchr11:126184030..126212953hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3811104
hg1911104
hg1811104
hg1711104
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1969
SamplesNA18555
Known GenesKIRREL3
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)nsv538
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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