A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv713



Internal ID15205422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:53118449..53160107hg38UCSC Ensembl
Outerchr12:53512233..53553891hg19UCSC Ensembl
Outerchr12:51798500..51840158hg18UCSC Ensembl
Outerchr12:51798500..51840158hg17UCSC 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 StatusM
Merged Variants
Supporting Variantsnssv9030, nssv2885
SamplesNA12156, NA18555
Known GenesCSAD, SOAT2
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)nsv713
Frequency
Sample Size9
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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