A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520785



Internal ID8415060
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:49050875..49070181hg38UCSC Ensembl
Innerchr19:49554132..49573438hg19UCSC Ensembl
Innerchr19:54245944..54265250hg18UCSC Ensembl
Innerchr19:54245944..54265250hg17UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3819307
hg1919307
hg1819307
hg1719307
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv691940, nssv675408
Samples
Known GenesCGB7, KCNA7, NTF4
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520785
Frequency
Sample Size2026
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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