A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv767



Internal ID15206016
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:71402424..71439217hg38UCSC Ensembl
Outerchr12:71796204..71832997hg19UCSC Ensembl
Outerchr12:70082471..70119264hg18UCSC Ensembl
Outerchr12:70082471..70119264hg17UCSC Ensembl
Cytoband12q21.1
Allele length
AssemblyAllele length
hg3836794
hg1936794
hg1836794
hg1736794
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9043
SamplesNA12156
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)nsv767
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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