A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5571



Internal ID5084822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:161146190..161147138hg19UCSC Ensembl
Outerchr6:161066180..161067128hg18UCSC Ensembl
Outerchr6:161116601..161117549hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg196654
hg186654
hg176654
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv8320
SamplesNA12156
Known GenesPLG
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)nsv5571
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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