A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2599



Internal ID5090017
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:119935023..119967748hg19UCSC Ensembl
Outerchr1:119736546..119769271hg18UCSC Ensembl
Outerchr1:119647065..119679790hg17UCSC Ensembl
Cytoband1p12
Allele length
AssemblyAllele length
hg195356
hg185356
hg175356
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv4648
SamplesNA19129
Known GenesHAO2, HSD3B2
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)nsv2599
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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