A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591



Internal ID15550766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:5268501..5302862hg38UCSC Ensembl
Outerchr12:5377667..5412028hg19UCSC Ensembl
Outerchr12:5247928..5282289hg18UCSC Ensembl
Outerchr12:5247928..5282289hg17UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3834362
hg1934362
hg1834362
hg1734362
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv8995
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)nsv591
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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