A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517368



Internal ID6014904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:122003757..122006527hg19UCSC Ensembl
Innerchr3:123486447..123489217hg18UCSC Ensembl
Innerchr3:123486447..123489217hg17UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Loss
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv680717, nssv666261, nssv678149, nssv673655, nssv670656, nssv652347, nssv653339, nssv688342, nssv667294, nssv691230, nssv683653, nssv681600, nssv669249, nssv651827, nssv672184, nssv674097, nssv669560, nssv682708, nssv673408, nssv656898, nssv693639, nssv674540
Samples
Known GenesCASR
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv517368
Frequency
Sample Size2026
Observed Gain0
Observed Loss22
Observed Complex0
Frequencyn/a


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