A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv848



Internal ID15206183
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99297553..99342531hg38UCSC Ensembl
Outerchr12:99691331..99736309hg19UCSC Ensembl
Outerchr12:98215462..98260440hg18UCSC Ensembl
Outerchr12:98193799..98238777hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3844979
hg1944979
hg1844979
hg1744979
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9068
SamplesNA12156
Known GenesANKS1B
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)nsv848
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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