A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv852



Internal ID15552873
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:100423575..100458752hg38UCSC Ensembl
Outerchr12:100817353..100852530hg19UCSC Ensembl
Outerchr12:99341484..99376661hg18UCSC Ensembl
Outerchr12:99319821..99354998hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg384567
hg194567
hg184567
hg174567
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4045
SamplesNA12878
Known Genes
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)nsv852
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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