A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv726



Internal ID15205565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:57817396..57852112hg38UCSC Ensembl
Outerchr12:58211179..58245895hg19UCSC Ensembl
Outerchr12:56497446..56532162hg18UCSC Ensembl
Outerchr12:56497446..56532162hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg385032
hg195032
hg185032
hg175032
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4027
SamplesNA12878
Known GenesCTDSP2, MIR26A2
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)nsv726
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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