A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv596231



Internal ID16036954
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:173169112..173169969hg38UCSC Ensembl
Innerchr4:174090263..174091120hg19UCSC Ensembl
Innerchr4:174326838..174327695hg18UCSC Ensembl
Cytoband4q34.1
Allele length
AssemblyAllele length
hg38858
hg19858
hg18858
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9397n54
Supporting Variantsnssv1016872
Samples
Known GenesGALNT7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv596231
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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