A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv4541



Internal ID5088784
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:149046946..149064639hg19UCSC Ensembl
Outerchr4:149266396..149284089hg18UCSC Ensembl
Outerchr4:149404551..149422244hg17UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg1918960
hg1818960
hg1718960
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv9647
SamplesNA18507
Known GenesNR3C2
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)nsv4541
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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