A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv937



Internal ID15552958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:130418556..130444459hg38UCSC Ensembl
Outerchr12:130903101..130929004hg19UCSC Ensembl
Outerchr12:129469054..129494957hg18UCSC Ensembl
Outerchr12:129427981..129453884hg17UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3813588
hg1913588
hg1813588
hg1713588
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv9980
SamplesNA18956
Known GenesRIMBP2
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)nsv937
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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