A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv273n106



Internal ID22794101
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:224011298..224016598hg38UCSC Ensembl
chr1:224199000..224204300hg19UCSC Ensembl
Cytoband1q42.11
Allele length
AssemblyAllele length
hg385301
hg195301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1124605, nsv1118463
SamplesKWS2, KWS1
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv273n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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