A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv9089



Internal ID15188089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:120900782..120934852hg38UCSC Ensembl
Outerchr12:121338585..121372655hg19UCSC Ensembl
Outerchr12:119822968..119857038hg18UCSC Ensembl
Outerchr12:119801305..119835375hg17UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg385361
hg195361
hg185361
hg175361
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv908
Supporting Variants
SamplesNA12156
Known GenesSPPL3
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)nssv9089
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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