A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6511



Internal ID15537352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:59443306..59488935hg38UCSC Ensembl
Outerchr12:59837087..59882716hg19UCSC Ensembl
Outerchr12:58123354..58168983hg18UCSC Ensembl
Outerchr12:58123354..58168983hg17UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3845630
hg1945630
hg1845630
hg1745630
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv735
Supporting Variants
SamplesNA12156
Known Genes
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)nssv6511
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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