A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv748



Internal ID15552493
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:64912431..64945913hg38UCSC Ensembl
Outerchr12:65306211..65339693hg19UCSC Ensembl
Outerchr12:63592478..63625960hg18UCSC Ensembl
Outerchr12:63592478..63625960hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg387444
hg197444
hg187444
hg177444
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1093
SamplesNA19240
Known GenesFLJ41278
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)nsv748
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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