A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9030



Internal ID15188148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53118449..53151680hg38UCSC Ensembl
Outerchr12:53512233..53545464hg19UCSC Ensembl
Outerchr12:51798500..51831731hg18UCSC Ensembl
Outerchr12:51798500..51831731hg17UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg386210
hg196210
hg186210
hg176210
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv713
Supporting Variants
SamplesNA12156
Known GenesSOAT2
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)nssv9030
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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