A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv120n106



Internal ID19018229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85514517..85540017hg38UCSC Ensembl
chr1:85980200..86005700hg19UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3825501
hg1925501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115346, nsv1118433
SamplesKWS1, KWS2
Known GenesDDAH1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv120n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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