A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2692n100



Internal ID20154308
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1002943..1394728hg38UCSC Ensembl
chr16:1052943..1444729hg19UCSC Ensembl
chr16:992944..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 Variants
Supporting Variantsnsv1039643, nsv1042758, nsv1050272
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)dgv2692n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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