A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4863n54



Internal ID20138287
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:2141733..2274302hg38UCSC Ensembl
chr16:2191734..2324303hg19UCSC Ensembl
chr16:2131735..2264304hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38132570
hg19132570
hg18132570
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571198, nsv571199
Samples1780862347_A
Known GenesBRICD5, CASKIN1, DNASE1L2, E4F1, ECI1, MIR3677, MIR940, MLST8, PGP, RAB26, RNPS1, SNORD60, TRAF7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4863n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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