A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4183



Internal ID15548867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr3:196307196..196352238hg38UCSC Ensembl
Outerchr3:196034067..196079109hg19UCSC Ensembl
Outerchr3:197518464..197563506hg18UCSC Ensembl
Outerchr3:197522377..197567419hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3845043
hg1945043
hg1845043
hg1745043
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7913
SamplesNA12156
Known GenesTCTEX1D2, TM4SF19, TM4SF19-TCTEX1D2
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)nsv4183
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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