A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521800



Internal ID6020350
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:228121147..228167544hg19UCSC Ensembl
Innerchr2:227829391..227875788hg18UCSC Ensembl
Innerchr2:227946652..227993049hg17UCSC Ensembl
Cytoband2q36.3
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 Variantsnssv694570
Samples
Known GenesCOL4A3
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)nsv521800
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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