A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv873



Internal ID15552894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:107422899..107450213hg38UCSC Ensembl
Outerchr12:107816676..107843990hg19UCSC Ensembl
Outerchr12:106340806..106368120hg18UCSC Ensembl
Outerchr12:106319143..106346457hg17UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg3827315
hg1927315
hg1827315
hg1727315
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9076
SamplesNA12156
Known GenesBTBD11
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)nsv873
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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