A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3960801



Internal ID19207819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:45618209..47590995hg38UCSC Ensembl
Outerchr22:46014089..47986744hg19UCSC Ensembl
Cytoband22q13.31
Allele length
AssemblyAllele length
hg381972787
hg191972656
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1120059
Supporting Variants
SamplesKWS1
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)nssv3960801
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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