A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4478



Internal ID15202505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:114575841..114607995hg38UCSC Ensembl
Outerchr4:115496997..115529151hg19UCSC Ensembl
Outerchr4:115716446..115748600hg18UCSC Ensembl
Outerchr4:115854601..115886755hg17UCSC Ensembl
Cytoband4q26
Allele length
AssemblyAllele length
hg3832155
hg1932155
hg1832155
hg1732155
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7116, nssv4779, nssv2479
SamplesNA12156, NA18555, NA19129
Known GenesUGT8
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)nsv4478
Frequency
Sample Size9
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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