A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv17n73



Internal ID20148152
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243619399..243620598hg38UCSC Ensembl
chr1:243782701..243783900hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv958632, nsv954006
SamplesBILGI_BIOE
Known GenesAKT3
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceDogan_et_al_2014
Pubmed ID24416366
Accession Number(s)dgv17n73
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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