A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596171



Internal ID16036894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:171184677..172359870hg38UCSC Ensembl
Innerchr4:172105828..173281021hg19UCSC Ensembl
Innerchr4:172342403..173517596hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg381175194
hg191175194
hg181175194
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1013118
Samples
Known GenesGALNTL6, MIR6082
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596171
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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