A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3969489



Internal ID19228760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:46737903..46738503hg38UCSC Ensembl
Outerchr22:47133800..47134400hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg38601
hg19601
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1122058
Supporting Variants
SamplesKWS2
Known GenesCERK
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3969489
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