A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1243n106



Internal ID22795071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75450759..75451759hg38UCSC Ensembl
chr15:75743100..75744100hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg381001
hg191001
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1121897, nsv1118323
SamplesKWS2, KWS1
Known GenesSIN3A
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1243n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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