A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv850



Internal ID15206185
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:99854429..99863026hg38UCSC Ensembl
Outerchr12:100248207..100256804hg19UCSC Ensembl
Outerchr12:98772338..98780935hg18UCSC Ensembl
Outerchr12:98750675..98759272hg17UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3828090
hg1928090
hg1828090
hg1728090
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9844
SamplesNA18507
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)nsv850
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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