A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3979006



Internal ID19233352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:123442362..123443746hg38UCSC Ensembl
Outerchr12:123926909..123928293hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381385
hg191385
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1140297
Supporting Variants
SamplesKWS2
Known Genes
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3979006
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