A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3433



Internal ID5086685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57842913..57877120hg19UCSC Ensembl
Outerchr20:57276308..57310515hg18UCSC Ensembl
Outerchr20:57276308..57310515hg17UCSC Ensembl
Cytoband20q13.32
Allele length
AssemblyAllele length
hg195822
hg185822
hg175822
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv3066
SamplesNA18555
Known GenesEDN3
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)nsv3433
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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