A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5479



Internal ID15203606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:131780757..131815453hg38UCSC Ensembl
Outerchr6:132101897..132136593hg19UCSC Ensembl
Outerchr6:132143590..132178286hg18UCSC Ensembl
Outerchr6:132143590..132178286hg17UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg3834697
hg1934697
hg1834697
hg1734697
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3470
SamplesNA12878
Known GenesENPP1
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)nsv5479
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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