A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961275



Internal ID18859992
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 StatusS
Merged Variantsnsv1110864
Supporting Variants
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)nssv3961275
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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