A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv593107



Internal ID16380516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197002210..197003253hg38UCSC Ensembl
Innerchr3:196729081..196730124hg19UCSC Ensembl
Innerchr3:198213478..198214521hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg381044
hg191044
hg181044
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8856n54
Supporting Variantsnssv987028, nssv987027, nssv987026, nssv987029
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)nsv593107
Frequency
Sample Size17421
Observed Gain1
Observed Loss3
Observed Complex0
Frequencyn/a


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