A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596197



Internal ID16383606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:171876610..171947794hg38UCSC Ensembl
Innerchr4:172797761..172868945hg19UCSC Ensembl
Innerchr4:173034336..173105520hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg3871185
hg1971185
hg1871185
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1014365
Samples
Known GenesGALNTL6
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596197
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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