A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1127027



Internal ID18912833
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17643793..17647145hg38UCSC Ensembl
Outerchr22:18126559..18129911hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg383353
hg193353
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2429n106
Supporting Variantsnssv3985332
SamplesKWS1
Known GenesBCL2L13
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1127027
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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