A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv651



Internal ID15204740
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:27490207..27520451hg38UCSC Ensembl
Outerchr12:27643140..27673384hg19UCSC Ensembl
Outerchr12:27534407..27564651hg18UCSC Ensembl
Outerchr12:27534407..27564651hg17UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg3830245
hg1930245
hg1830245
hg1730245
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1071
SamplesNA19240
Known GenesSMCO2
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)nsv651
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer