A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5062



Internal ID8516816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:150117381..150161972hg38UCSC Ensembl
Outerchr5:149496944..149541535hg19UCSC Ensembl
Outerchr5:149477137..149521728hg18UCSC Ensembl
Outerchr5:149477137..149521728hg17UCSC Ensembl
Cytoband5q32
Allele length
AssemblyAllele length
hg3844592
hg1944592
hg1844592
hg1744592
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2550
SamplesNA18555
Known GenesPDGFRB
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)nsv5062
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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