A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv787



Internal ID15206122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:79888046..79922978hg38UCSC Ensembl
Outerchr12:80281826..80316758hg19UCSC Ensembl
Outerchr12:78805957..78840889hg18UCSC Ensembl
Outerchr12:78784294..78819226hg17UCSC Ensembl
Cytoband12q21.2
Allele length
AssemblyAllele length
hg384795
hg194795
hg184795
hg174795
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4035
SamplesNA12878
Known GenesPPP1R12A
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)nsv787
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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