A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv526047



Internal ID6017466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:100150022..100446046hg19UCSC Ensembl
Innerchr1:99922610..100218634hg18UCSC Ensembl
Innerchr1:99862043..100158067hg17UCSC Ensembl
Cytoband1p21.2
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 Variantsnssv702283
Samples
Known GenesAGL, FRRS1, MIR548AA1, MIR548D1, PALMD, SLC35A3
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)nsv526047
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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