A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9001



Internal ID15534863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:10624268..10668936hg38UCSC Ensembl
Outerchr12:10776867..10821535hg19UCSC Ensembl
Outerchr12:10668134..10712802hg18UCSC Ensembl
Outerchr12:10668134..10712802hg17UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3844669
hg1944669
hg1844669
hg1744669
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv607
Supporting Variants
SamplesNA12156
Known GenesSTYK1
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)nssv9001
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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