A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv828



Internal ID15206163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:94206463..94232629hg38UCSC Ensembl
Outerchr12:94600239..94626405hg19UCSC Ensembl
Outerchr12:93124370..93150536hg18UCSC Ensembl
Outerchr12:93102707..93128873hg17UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg3813861
hg1913861
hg1813861
hg1713861
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2007
SamplesNA18555
Known GenesPLXNC1
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)nsv828
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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