A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2402n106



Internal ID19020511
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:44523217..44525517hg38UCSC Ensembl
chr21:45943100..45945400hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382301
hg192301
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1124847, nsv1128845
SamplesKWS1, KWS2
Known GenesTSPEAR
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2402n106
Frequency
Sample Size2
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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