A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1067



Internal ID15544874
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22418212..22434483hg38UCSC Ensembl
Outerchr12:22571146..22587417hg19UCSC Ensembl
Outerchr12:22462413..22478684hg18UCSC Ensembl
Outerchr12:22462413..22478684hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3816272
hg1916272
hg1816272
hg1716272
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv640
Supporting Variants
SamplesNA19240
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)nssv1067
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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