A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064416



Internal ID19153635
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:32069540..32473866hg38UCSC Ensembl
Innerchr16:32080861..32485187hg19UCSC Ensembl
Innerchr16:31988362..32392688hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38404327
hg19404327
hg18404327
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2845n100
Supporting Variantsnssv3549329
Samples
Known GenesHERC2P4, LOC390705, TP53TG3D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064416
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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