A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv363



Internal ID15201572
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:66597906..66629110hg38UCSC Ensembl
Outerchr11:66365377..66396581hg19UCSC Ensembl
Outerchr11:66121953..66153157hg18UCSC Ensembl
Outerchr11:66121953..66153157hg17UCSC Ensembl
Cytoband11q13.1
Allele length
AssemblyAllele length
hg388532
hg198532
hg188532
hg178532
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3960
SamplesNA12878
Known GenesCCS, RBM14, RBM14-RBM4
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)nsv363
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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