A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv750



Internal ID15552515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65439597..65485300hg38UCSC Ensembl
Outerchr12:65833377..65879080hg19UCSC Ensembl
Outerchr12:64119644..64165347hg18UCSC Ensembl
Outerchr12:64119644..64165347hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg3845704
hg1945704
hg1845704
hg1745704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv6514
SamplesNA12156
Known GenesMSRB3
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)nsv750
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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