A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv759



Internal ID15205928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:68733642..68778674hg38UCSC Ensembl
Outerchr12:69127422..69172454hg19UCSC Ensembl
Outerchr12:67413689..67458721hg18UCSC Ensembl
Outerchr12:67413689..67458721hg17UCSC Ensembl
Cytoband12q15
Allele length
AssemblyAllele length
hg3845033
hg1945033
hg1845033
hg1745033
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9041
SamplesNA12156
Known GenesNUP107, SLC35E3
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)nsv759
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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