A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv591157



Internal ID16031880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:100616244..100736295hg38UCSC Ensembl
Innerchr3:100335088..100455139hg19UCSC Ensembl
Innerchr3:101817778..101937829hg18UCSC Ensembl
Cytoband3q12.2
Allele length
AssemblyAllele length
hg38120052
hg19120052
hg18120052
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8476n54
Supporting Variantsnssv970689
Samples
Known GenesGPR128, TFG
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv591157
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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