A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv987033



Internal ID16280989
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197002210..197003542hg38UCSC Ensembl
Innerchr3:196729081..196730413hg19UCSC Ensembl
Innerchr3:198213478..198214810hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381333
hg191333
hg181333
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593109
Supporting Variants
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)nssv987033
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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