A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1991



Internal ID5087033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:15129277..15154057hg19UCSC Ensembl
Outerchr17:15070002..15094782hg18UCSC Ensembl
Outerchr17:15070002..15094782hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg1916222
hg1816222
hg1716222
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1348
SamplesNA19240
Known GenesPMP22
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)nsv1991
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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