A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595678



Internal ID16383087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148444433..148445719hg38UCSC Ensembl
Innerchr4:149365585..149366871hg19UCSC Ensembl
Innerchr4:149585035..149586321hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg381287
hg191287
hg181287
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1009391
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595678
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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