A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv749



Internal ID15205818
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65293294..65296105hg38UCSC Ensembl
Outerchr12:65687074..65689885hg19UCSC Ensembl
Outerchr12:63973341..63976152hg18UCSC Ensembl
Outerchr12:63973341..63976152hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg386481
hg196481
hg186481
hg176481
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5432
SamplesNA19129
Known GenesMSRB3
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)nsv749
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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