A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv906



Internal ID15206241
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120535880..120580638hg38UCSC Ensembl
Outerchr12:120973683..121018441hg19UCSC Ensembl
Outerchr12:119458066..119502824hg18UCSC Ensembl
Outerchr12:119436403..119481161hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3844759
hg1944759
hg1844759
hg1744759
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9087
SamplesNA12156
Known GenesPOP5, RNF10
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)nsv906
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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