A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv613730



Internal ID16054453
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:19281101..19516865hg38UCSC Ensembl
Innerchr9:19281099..19516863hg19UCSC Ensembl
Innerchr9:19271099..19506863hg18UCSC Ensembl
Cytoband9p22.1
Allele length
AssemblyAllele length
hg38235765
hg19235765
hg18235765
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1156447
Samples1780854295_A
Known GenesACER2, DENND4C, RPS6, SLC24A2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv613730
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer