A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv6493



Internal ID15537370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13389846..13403979hg38UCSC Ensembl
Outerchr12:13542780..13556913hg19UCSC Ensembl
Outerchr12:13434047..13448180hg18UCSC Ensembl
Outerchr12:13434047..13448180hg17UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg3814134
hg1914134
hg1814134
hg1714134
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv615
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)nssv6493
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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