A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2917n54



Internal ID20136341
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120903674..120904437hg38UCSC Ensembl
chr12:121341477..121342240hg19UCSC Ensembl
chr12:119825860..119826623hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38764
hg19764
hg18764
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv560449, nsv560447, nsv560451
Samples
Known GenesSPPL3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv2917n54
Frequency
Sample Size17421
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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