A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1242n106



Internal ID20160599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr15:75255559..75301059hg38UCSC Ensembl
chr15:75547900..75593400hg19UCSC Ensembl
Cytoband15q24.2
Allele length
AssemblyAllele length
hg3845501
hg1945501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1141267, nsv1118560
SamplesKWS2, KWS1
Known GenesGOLGA6C, GOLGA6D
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv1242n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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