A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv751



Internal ID15552526
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:65458678..65491992hg38UCSC Ensembl
Outerchr12:65852458..65885772hg19UCSC Ensembl
Outerchr12:64138725..64172039hg18UCSC Ensembl
Outerchr12:64138725..64172039hg17UCSC Ensembl
Cytoband12q14.3
Allele length
AssemblyAllele length
hg386432
hg196432
hg186432
hg176432
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv4029
SamplesNA12878
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)nsv751
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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