A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4856n54



Internal ID18997032
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:1600945..1813519hg38UCSC Ensembl
chr16:1650946..1863520hg19UCSC Ensembl
chr16:1590947..1803521hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38212575
hg19212575
hg18212575
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571168, nsv571167
Samples
Known GenesCRAMP1L, EME2, HAGH, HN1L, IFT140, IGFALS, MAPK8IP3, MIR3177, MRPS34, NME3, NUBP2, SPSB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4856n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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