A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1152391



Internal ID15881196
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr20:62332390..62812195hg38UCSC Ensembl
Innerchr20:60907446..61443547hg19UCSC Ensembl
Innerchr20:60340841..60913992hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38479806
hg19536102
hg18573152
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv586496
Supporting Variants
SamplesNINDS_83
Known GenesC20orf166, C20orf166-AS1, CABLES2, GATA5, LAMA5, LINC00659, LOC100127888, MIR1-1, MIR133A2, MIR4758, MRGBP, NTSR1, OGFR, OGFR-AS1, RBBP8NL, RPS21, SLCO4A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv1152391
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