A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv615305



Internal ID16402714
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:125746624..125748317hg38UCSC Ensembl
Innerchr9:128508903..128510596hg19UCSC Ensembl
Innerchr9:127548724..127550417hg18UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg381694
hg191694
hg181694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12867n54
Supporting Variantsnssv1141343, nssv1141344, nssv1141345
Samples
Known GenesPBX3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv615305
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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