A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4946n54



Internal ID18997122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:21563897..21728953hg38UCSC Ensembl
chr16:21575218..21740274hg19UCSC Ensembl
chr16:21482719..21647775hg18UCSC Ensembl
Cytoband16p12.2
Allele length
AssemblyAllele length
hg38165057
hg19165057
hg18165057
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571628, nsv571636
SamplesNINDS_116, 1780862399_A, 1780854129_A, 1780862001_A, 1782681142_A, 1780854463_A
Known GenesIGSF6, METTL9, OTOA
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4946n54
Frequency
Sample Size17421
Observed Gain6
Observed Loss9
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer