A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596198



Internal ID16383607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:171993608..172114109hg38UCSC Ensembl
Innerchr4:172914759..173035260hg19UCSC Ensembl
Innerchr4:173151334..173271835hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38120502
hg19120502
hg18120502
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9391n54
Supporting Variantsnssv1014366
Samples
Known GenesGALNTL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596198
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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