A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4202



Internal ID15548888
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:3437803..3483146hg38UCSC Ensembl
Outerchr4:3439530..3484873hg19UCSC Ensembl
Outerchr4:3409328..3454671hg18UCSC Ensembl
Outerchr4:3476499..3521842hg17UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg3845344
hg1945344
hg1845344
hg1745344
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7063
SamplesNA12156
Known GenesDOK7, HGFAC, RGS12
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)nsv4202
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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