A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1653



Internal ID5084523
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr15:89413640..89458572hg19UCSC Ensembl
Outerchr15:87214644..87259576hg18UCSC Ensembl
Outerchr15:87214644..87259576hg17UCSC Ensembl
Cytoband15q26.1
Allele length
AssemblyAllele length
hg195498
hg185498
hg175498
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv7212
SamplesNA12156
Known GenesACAN, HAPLN3, MFGE8
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)nsv1653
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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