A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1110864



Internal ID18933604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:29410168..32149833hg38UCSC Ensembl
Outerchr22:29806157..32545820hg19UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg382739666
hg192739664
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3961275
SamplesKWS1
Known GenesAP1B1P1, ASCC2, C22orf24, C22orf42, CABP7, CCDC157, DEPDC5, DRG1, DUSP18, EIF4ENIF1, GAL3ST1, GATSL3, HORMAD2, INPP5J, KIAA1656, LIF, LIMK2, MIR3200, MIR3928, MIR6818, MIR7109, MORC2, MORC2-AS1, MTFP1, MTMR3, NEFH, NF2, NIPSNAP1, OSBP2, OSM, PATZ1, PES1, PIK3IP1, PISD, PLA2G3, PRR14L, RFPL1, RFPL1S, RNF185, RNF215, SDC4P, SEC14L2, SEC14L3, SEC14L4, SEC14L6, SELM, SF3A1, SFI1, SLC35E4, SLC5A1, SMTN, TBC1D10A, TCN2, THOC5, TUG1, UQCR10, YWHAH, ZMAT5
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nsv1110864
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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