A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4490



Internal ID8516187
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:120861784..120880091hg38UCSC Ensembl
Outerchr4:121782939..121801246hg19UCSC Ensembl
Outerchr4:122002389..122020696hg18UCSC Ensembl
Outerchr4:122140544..122158851hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg3818308
hg1918308
hg1818308
hg1718308
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv7997
SamplesNA12156
Known GenesPRDM5
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)nsv4490
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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