A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5440



Internal ID5086994
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:111441320..111475264hg19UCSC Ensembl
Outerchr6:111548013..111581957hg18UCSC Ensembl
Outerchr6:111548013..111581957hg17UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg197054
hg187054
hg177054
Variant TypeCNV Insertion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv576
SamplesNA19240
Known GenesSLC16A10
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)nsv5440
Frequency
Sample Size9
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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