A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1129363



Internal ID18912161
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:6921073..6921145hg38UCSC Ensembl
Outerchr12:7030236..7030308hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3873
hg1973
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3962800
SamplesKWS1
Known GenesENO2
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1129363
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