A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1125357



Internal ID19272359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:64822299..64822374hg38UCSC Ensembl
Outerchr14:65289017..65289092hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg3876
hg1976
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3983532
SamplesKWS2
Known GenesSPTB
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1125357
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