A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1063090



Internal ID18805621
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27516491..27733000hg38UCSC Ensembl
Innerchr16:27527812..27744321hg19UCSC Ensembl
Innerchr16:27435313..27651822hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38216510
hg19216510
hg18216510
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2829n100
Supporting Variantsnssv3549140
Samples
Known GenesGTF3C1, KIAA0556
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1063090
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