A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2453n106



Internal ID20161810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:29767547..29769763hg38UCSC Ensembl
chr22:30163536..30165752hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382217
hg192217
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1144412, nsv1122221
SamplesKWS1
Known GenesUQCR10
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2453n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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