A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv885



Internal ID15206220
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110601815..110634568hg38UCSC Ensembl
Outerchr12:111039620..111072373hg19UCSC Ensembl
Outerchr12:109524003..109556756hg18UCSC Ensembl
Outerchr12:109502340..109535093hg17UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg386943
hg196943
hg186943
hg176943
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4050
SamplesNA12878
Known GenesTCTN1
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)nsv885
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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