A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593110



Internal ID16380519
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197002405..197003542hg38UCSC Ensembl
Innerchr3:196729276..196730413hg19UCSC Ensembl
Innerchr3:198213673..198214810hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381138
hg191138
hg181138
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8856n54
Supporting Variantsnssv987037, nssv987036
Samples
Known GenesMFI2, MFI2-AS1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv593110
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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