A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3999843



Internal ID18847354
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45618201..47591020hg38UCSC Ensembl
Outerchr22:46014081..47986769hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381972820
hg191972689
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1152661
Supporting Variants
SamplesKWB1
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
ReferenceJohn_et_al_2014
Pubmed ID26484159
Accession Number(s)nssv3999843
Frequency
Sample Size1
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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