A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2976n100



Internal ID20154592
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:48497260..48544190hg38UCSC Ensembl
chr16:48531171..48578101hg19UCSC Ensembl
chr16:47088672..47135602hg18UCSC Ensembl
Cytoband16q12.1
Allele length
AssemblyAllele length
hg3846931
hg1946931
hg1846931
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064323, nsv1060196
Samples
Known GenesN4BP1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv2976n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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