A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv443



Internal ID15202452
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:94427828..94452705hg38UCSC Ensembl
Outerchr11:94160994..94185871hg19UCSC Ensembl
Outerchr11:93800642..93825519hg18UCSC Ensembl
Outerchr11:93800642..93825519hg17UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg386708
hg196708
hg186708
hg176708
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8950
SamplesNA12156
Known GenesMRE11A
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)nsv443
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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