A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520263



Internal ID6014385
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:238311612..238313196hg19UCSC Ensembl
Innerchr2:237976351..237977935hg18UCSC Ensembl
Innerchr2:238093612..238095196hg17UCSC Ensembl
Cytoband2q37.3
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 Variantsnssv662252, nssv679698, nssv683746
Samples
Known GenesCOL6A3
Method
AnalysisMerged-level CNV regions
PlatformIllumina HumanHap550 Genotyping BeadChip v3
Comments
ReferenceShaikh et al 2009
Pubmed ID19592680
Accession Number(s)nsv520263
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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