A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3983216



Internal ID19216305
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:115368150..115368206hg38UCSC Ensembl
Outerchr11:115238868..115238924hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3857
hg1957
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1134177
Supporting Variants
SamplesKWS1
Known GenesCADM1
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3983216
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