A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061980



Internal ID18804511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:31327141..31404150hg38UCSC Ensembl
Innerchr16:31338462..31415471hg19UCSC Ensembl
Innerchr16:31245963..31322972hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3877010
hg1977010
hg1877010
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3549159, nssv3549160
Samples
Known GenesITGAD, ITGAM, ITGAX
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061980
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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