A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595679



Internal ID16383088
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:148444548..148445431hg38UCSC Ensembl
Innerchr4:149365700..149366583hg19UCSC Ensembl
Innerchr4:149585150..149586033hg18UCSC Ensembl
Cytoband4q31.23
Allele length
AssemblyAllele length
hg38884
hg19884
hg18884
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1009392
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595679
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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