A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv522715



Internal ID6018779
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:33319263..34037980hg19UCSC Ensembl
Innerchr5:33355020..34073737hg18UCSC Ensembl
Innerchr5:33355020..34073737hg17UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Gain
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsnssv698345
Samples
Known GenesADAMTS12, AMACR, C1QTNF3, C1QTNF3-AMACR, RXFP3, SLC45A2, TARS
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)nsv522715
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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