A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060609



Internal ID18803140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:28637870..29021481hg38UCSC Ensembl
Innerchr16:28649191..29032802hg19UCSC Ensembl
Innerchr16:28556692..28940303hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38383612
hg19383612
hg18383612
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2830n100
Supporting Variantsnssv3716180
Samples
Known GenesATP2A1, ATXN2L, CD19, EIF3C, EIF3CL, LAT, LOC100289092, MIR4517, MIR4721, MIR6862-1, MIR6862-2, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060609
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