A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527552



Internal ID6016932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:45347644..45349509hg19UCSC Ensembl
Innerchr6:45455622..45457487hg18UCSC Ensembl
Innerchr6:45455622..45457487hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv704013
Samples
Known GenesRUNX2
Method
AnalysisCNV regions located outside of or spanning over several merged-level regions determined by the submitter
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv527552
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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