A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv385



Internal ID15201814
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:72270271..72306912hg38UCSC Ensembl
Outerchr11:71981315..72017956hg19UCSC Ensembl
Outerchr11:71658963..71695604hg18UCSC Ensembl
Outerchr11:71658963..71695604hg17UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg386878
hg196878
hg186878
hg176878
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1946, nssv1020
SamplesNA18555, NA19240
Known GenesCLPB
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)nsv385
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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