A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv614558



Internal ID16055281
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:69126404..69128184hg38UCSC Ensembl
Innerchr9:71741320..71743100hg19UCSC Ensembl
Innerchr9:70931140..70932920hg18UCSC Ensembl
Cytoband9q21.11
Allele length
AssemblyAllele length
hg381781
hg191781
hg181781
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv12740n54
Supporting Variantsnssv1135814, nssv1135818, nssv1135816, nssv1135817, nssv1135815, nssv1135813
Samples
Known GenesTJP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv614558
Frequency
Sample Size17421
Observed Gain2
Observed Loss4
Observed Complex0
Frequencyn/a


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