A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039643



Internal ID18782174
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1002943..1394728hg38UCSC Ensembl
Innerchr16:1052943..1444729hg19UCSC Ensembl
Innerchr16:992944..1384730hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38391786
hg19391787
hg18391787
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2692n100
Supporting Variantsnssv3556951
Samples
Known GenesBAIAP3, C1QTNF8, CACNA1H, GNPTG, SSTR5, SSTR5-AS1, TPSAB1, TPSB2, TPSD1, TPSG1, TSR3, UBE2I, UNKL
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1039643
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