A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1143609



Internal ID19274170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:50231282..50231982hg38UCSC Ensembl
Outerchr14:50698000..50698700hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg38701
hg19701
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981292
SamplesKWS1
Known GenesSOS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1143609
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