A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1118832



Internal ID18935733
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49590843..49592143hg38UCSC Ensembl
Outerchr19:50094100..50095400hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg381301
hg191301
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3981147
SamplesKWS1
Known GenesPRR12, PRRG2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1118832
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