A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4912n54



Internal ID20138336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:13200753..13202069hg38UCSC Ensembl
chr16:13294610..13295926hg19UCSC Ensembl
chr16:13202111..13203427hg18UCSC Ensembl
Cytoband16p13.12
Allele length
AssemblyAllele length
hg381317
hg191317
hg181317
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv571483, nsv571491, nsv571484
Samples
Known GenesSHISA9
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv4912n54
Frequency
Sample Size17421
Observed Gain0
Observed Loss11
Observed Complex0
Frequencyn/a


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