A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116501



Internal ID18919435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:56532568..56547652hg38UCSC Ensembl
Outerchr12:56926352..56941436hg19UCSC Ensembl
Cytoband12q13.3
Allele length
AssemblyAllele length
hg3815085
hg1915085
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3978686
SamplesKWS2
Known GenesRBMS2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116501
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