A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4490



Internal ID5091426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:121782939..121801246hg19UCSC Ensembl
Outerchr4:122002389..122020696hg18UCSC Ensembl
Outerchr4:122140544..122158851hg17UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg195628
hg185628
hg175628
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7997
SamplesNA12156
Known GenesPRDM5
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
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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