A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2468n106



Internal ID22796296
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:45349418..45350362hg38UCSC Ensembl
chr22:45745299..45746243hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1126017, nsv1130790
SamplesKWS2, KWS1
Known GenesSMC1B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2468n106
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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