A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3981746



Internal ID19209870
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:50343271..50345871hg38UCSC Ensembl
Outerchr22:50781700..50784300hg19UCSC Ensembl
Cytoband22q13.33
Allele length
AssemblyAllele length
hg382601
hg192601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1118958
Supporting Variants
SamplesKWS1
Known GenesPPP6R2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3981746
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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