A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv987036



Internal ID16280992
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 loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv593110
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)nssv987036
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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