A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1008539



Internal ID18751070
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:131468769..131523332hg38UCSC Ensembl
Innerchr2:132226342..132280905hg19UCSC Ensembl
Innerchr2:131942812..131997375hg18UCSC Ensembl
Cytoband2q21.1
Allele length
AssemblyAllele length
hg3854564
hg1954564
hg1854564
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3580871
Samples
Known GenesLOC150776, MIR4784, MZT2A, RNU6-81P, TUBA3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1008539
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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