A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1116471



Internal ID18903715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45618141..47590983hg38UCSC Ensembl
Outerchr22:46014021..47986732hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381972843
hg191972712
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2469n106
Supporting Variantsnssv3978652
SamplesKWS2
Known GenesATXN10, C22orf26, CDPF1, CELSR1, CERK, GRAMD4, GTSE1, GTSE1-AS1, LINC00899, LOC150381, LOC730668, MIR3619, MIR4762, MIR4763, MIRLET7A3, MIRLET7B, MIRLET7BHG, PKDREJ, PPARA, TBC1D22A, TRMU, TTC38, WNT7B
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1116471
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