A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1148898



Internal ID18856100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:17835178..17835288hg38UCSC Ensembl
Outerchr22:18317944..18318054hg19UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38111
hg19111
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3997684
SamplesKWB1
Known GenesMICAL3
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nsv1148898
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer