A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1131



Internal ID15197921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130786700..130821576hg38UCSC Ensembl
Outerchr12:131271245..131306121hg19UCSC Ensembl
Outerchr12:129837198..129872074hg18UCSC Ensembl
Outerchr12:129796125..129831001hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg386118
hg196118
hg186118
hg176118
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv939
Supporting Variants
SamplesNA19240
Known GenesSTX2
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)nssv1131
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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