A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv521311



Internal ID8415586
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:41350981..41376807hg38UCSC Ensembl
Innerchr19:41856886..41882712hg19UCSC Ensembl
Innerchr19:46548726..46574552hg18UCSC Ensembl
Innerchr19:46548726..46574552hg17UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3825827
hg1925827
hg1825827
hg1725827
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv697919
Samples
Known GenesB9D2, TGFB1, TMEM91
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
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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