A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3961274



Internal ID18871844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:23602774..25427380hg38UCSC Ensembl
Outerchr22:23944961..25823347hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg381824607
hg191878387
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1110863
Supporting Variants
SamplesKWS1
Known GenesADORA2A, ADORA2A-AS1, BCRP3, C22orf15, C22orf43, CABIN1, CHCHD10, CRYBB2, CRYBB3, DDT, DDTL, DERL3, FAM211B, GGT1, GGT5, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, IGLL3P, KIAA1671, LOC100128531, LOC284889, LOC391322, LRP5L, MIF, MMP11, PIWIL3, POM121L10P, POM121L9P, RGL4, SGSM1, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SUSD2, TMEM211, TOP1P2, UPB1, VPREB3, ZNF70
MethodSequencing
AnalysisHugeSeq
PlatformIllumina HiSeq 2000
Comments
ReferenceAlsmadi_et_al_2014
Pubmed ID24896259
Accession Number(s)nssv3961274
Frequency
Sample Size2
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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