A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv2068



Internal ID5087851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr17:44071706..44106574hg19UCSC Ensembl
Outerchr17:41427543..41462421hg18UCSC Ensembl
Outerchr17:41427543..41462421hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg196122
hg186122
hg176122
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv1373
SamplesNA19240
Known GenesMAPT, STH
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)nsv2068
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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