A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4987n54



Internal ID20138411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:28824884..29032129hg38UCSC Ensembl
chr16:28836205..29043450hg19UCSC Ensembl
chr16:28743706..28950951hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg38207246
hg19207246
hg18207246
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571807, nsv571806
Samples
Known GenesATP2A1, ATXN2L, CD19, LAT, LOC100289092, MIR4517, MIR4721, NFATC2IP, RABEP2, SH2B1, SPNS1, TUFM
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4987n54
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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