A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv527485



Internal ID6024702
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:150645638..150647156hg19UCSC Ensembl
Innerchr5:150625831..150627349hg18UCSC Ensembl
Innerchr5:150625831..150627349hg17UCSC Ensembl
Cytoband5q33.1
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 Variantsnssv703932
Samples
Known GenesGM2A
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)nsv527485
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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