A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1130447



Internal ID18909521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17801130..17801452hg38UCSC Ensembl
Outerchr22:18283896..18284218hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38323
hg19323
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2430n106
Supporting Variantsnssv3969275, nssv3965711
SamplesKWS2, KWS1
Known GenesMICAL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1130447
Frequency
Sample Size2
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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