A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521311



Internal ID6021421
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41856886..41882712hg19UCSC Ensembl
Innerchr19:46548726..46574552hg18UCSC Ensembl
Innerchr19:46548726..46574552hg17UCSC Ensembl
Cytoband19q13.2
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 Variantsnssv697919
Samples
Known GenesB9D2, TGFB1, TMEM91
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)nsv521311
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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