A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv531



Internal ID15203420
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:124866914..124904425hg38UCSC Ensembl
Outerchr11:124736810..124774321hg19UCSC Ensembl
Outerchr11:124242020..124279531hg18UCSC Ensembl
Outerchr11:124242020..124279531hg17UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3812654
hg1912654
hg1812654
hg1712654
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1049, nssv10845
SamplesNA18956, NA19240
Known GenesROBO3, ROBO4
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)nsv531
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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