A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv582118



Internal ID16022841
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:61431550..62075525hg38UCSC Ensembl
Innerchr2:61658685..62302660hg19UCSC Ensembl
Innerchr2:61512189..62156164hg18UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg38643976
hg19643976
hg18643976
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv911332
Samples
Known GenesCCT4, COMMD1, FAM161A, USP34, XPO1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv582118
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