A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv5411



Internal ID15543919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:22400807..22434815hg38UCSC Ensembl
Outerchr12:22553741..22587749hg19UCSC Ensembl
Outerchr12:22445008..22479016hg18UCSC Ensembl
Outerchr12:22445008..22479016hg17UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg3834009
hg1934009
hg1834009
hg1734009
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv640
Supporting Variants
SamplesNA19129
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)nssv5411
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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