A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv747



Internal ID15552482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:63997792..64030218hg38UCSC Ensembl
Outerchr12:64391572..64423998hg19UCSC Ensembl
Outerchr12:62677839..62710265hg18UCSC Ensembl
Outerchr12:62677839..62710265hg17UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg3832427
hg1932427
hg1832427
hg1732427
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv5430
SamplesNA19129
Known GenesSRGAP1
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)nsv747
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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