A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4166



Internal ID15548848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:189473382..189518054hg38UCSC Ensembl
Outerchr3:189191171..189235843hg19UCSC Ensembl
Outerchr3:190673865..190718537hg18UCSC Ensembl
Outerchr3:190673873..190718545hg17UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg3844673
hg1944673
hg1844673
hg1744673
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7906
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)nsv4166
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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