A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv592989



Internal ID16380398
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:195270653..195271166hg38UCSC Ensembl
Innerchr3:194991382..194991895hg19UCSC Ensembl
Innerchr3:196472671..196473184hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38514
hg19514
hg18514
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv8827n54
Supporting Variantsnssv986748, nssv986747, nssv986753, nssv986756, nssv986754, nssv986749, nssv986751, nssv986755, nssv986752, nssv986750
Samples
Known GenesXXYLT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv592989
Frequency
Sample Size17421
Observed Gain6
Observed Loss4
Observed Complex0
Frequencyn/a


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