A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116511



Internal ID19258320
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:45092323..45093851hg38UCSC Ensembl
Outerchr14:45561526..45563054hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg381529
hg191529
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978696
SamplesKWS2
Known GenesPRPF39
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116511
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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