A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv2480n106



Internal ID20161837
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:49908358..49908790hg38UCSC Ensembl
chr22:50302006..50302438hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg38433
hg19433
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1119749, nsv1122243
SamplesKWS1
Known GenesALG12
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)dgv2480n106
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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