A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv5516



Internal ID5084938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:144300321..144345812hg19UCSC Ensembl
Outerchr6:144342014..144387505hg18UCSC Ensembl
Outerchr6:144342014..144387505hg17UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg196052
hg186052
hg176052
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv6092
SamplesNA12156
Known GenesHYMAI, PLAGL1
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)nsv5516
Frequency
Sample Size9
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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