A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv520073



Internal ID15447366
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47778915..47807285hg38UCSC Ensembl
Innerchr19:48282172..48310542hg19UCSC Ensembl
Innerchr19:52973984..53002354hg18UCSC Ensembl
Innerchr19:52973984..53002354hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3828371
hg1928371
hg1828371
hg1728371
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv694362
Samples
Known GenesSEPW1, TPRX1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv520073
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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