A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv780



Internal ID15552801
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:77171413..77196286hg38UCSC Ensembl
Outerchr12:77565193..77590066hg19UCSC Ensembl
Outerchr12:76089324..76114197hg18UCSC Ensembl
Outerchr12:76067661..76092534hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg3824874
hg1924874
hg1824874
hg1724874
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9050
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)nsv780
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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