A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2691n100



Internal ID19013059
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1002943..1247707hg38UCSC Ensembl
chr16:1052943..1297708hg19UCSC Ensembl
chr16:992944..1237709hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38244765
hg19244766
hg18244766
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1053864, nsv1037188
Samples
Known GenesC1QTNF8, CACNA1H, SSTR5, SSTR5-AS1, TPSAB1, TPSB2, TPSG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2691n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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