A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591171



Internal ID16031894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100797923..100803376hg38UCSC Ensembl
Innerchr3:100516767..100522220hg19UCSC Ensembl
Innerchr3:101999457..102004910hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg385454
hg195454
hg185454
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8480n54
Supporting Variantsnssv970741, nssv970739, nssv970740, nssv970738
Samples
Known GenesABI3BP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591171
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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