A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592123



Internal ID16032846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:158760007..158907339hg38UCSC Ensembl
Innerchr3:158477796..158625128hg19UCSC Ensembl
Innerchr3:159960490..160107822hg18UCSC Ensembl
Cytoband3q25.32
Allele length
AssemblyAllele length
hg38147333
hg19147333
hg18147333
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv977132
Samples
Known GenesMFSD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592123
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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