A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2303n106



Internal ID22796131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:8987967..9077467hg38UCSC Ensembl
chr21:9826800..9916300hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg3889501
hg1989501
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1115605, nsv1128839
SamplesKWS2, KWS1
Known GenesTEKT4P2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2303n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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