A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6170



Internal ID5089539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:42351765..42383142hg19UCSC Ensembl
Outerchr8:42470922..42502299hg18UCSC Ensembl
Outerchr8:42470922..42502299hg17UCSC Ensembl
Cytoband8p11.21
Allele length
AssemblyAllele length
hg197905
hg187905
hg177905
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv5083
SamplesNA19129
Known GenesSLC20A2
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)nsv6170
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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