A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6503



Internal ID15190675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:47066933..47079599hg38UCSC Ensembl
Outerchr12:47460716..47473382hg19UCSC Ensembl
Outerchr12:45746983..45759649hg18UCSC Ensembl
Outerchr12:45746983..45759649hg17UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg3812667
hg1912667
hg1812667
hg1712667
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv694
Supporting Variants
SamplesNA12156
Known GenesAMIGO2
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)nssv6503
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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