A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7350



Internal ID5088786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21680249..27646667hg19UCSC Ensembl
Outerchr22:20010249..25976667hg18UCSC Ensembl
Outerchr22:20004803..25971221hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeOTHER Inversion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsnssv9606, nssv4573, nssv5922, nssv11046, nssv6967, nssv5926, nssv1639, nssv10316, nssv5921, nssv6968, nssv6978
SamplesNA18507, NA15510, NA18956, NA19129, NA12156, NA12878, NA19240
Known GenesADORA2A, ADRBK2, ASPHD2, BCR, BCRP3, C22orf13, C22orf15, C22orf36, C22orf43, C22orf45, CABIN1, CCDC116, CES5AP1, CHCHD10, CRYBA4, CRYBB1, CRYBB2, CRYBB2P1, CRYBB3, DDT, DDTL, DERL3, FBXW4P1, GGT1, GGT5, GGTLC2, GNAZ, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUSBP11, HIC2, HPS4, IGLL1, IGLL3P, IGLL5, KIAA1671, LOC100128531, LOC284889, LOC391322, LOC648691, LOC96610, LRP5L, MAPK1, MIAT, MIF, MIR1302-1, MIR130B, MIR301B, MIR548J, MIR650, MMP11, MYO18B, PI4KAP2, PIWIL3, POM121L10P, POM121L1P, POM121L9P, PPIL2, PPM1F, PRAME, RAB36, RGL4, RIMBP3B, RIMBP3C, RTDR1, SDF2L1, SEZ6L, SGSM1, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SRRD, SUSD2, TFIP11, TMEM191C, TMEM211, TOP1P2, TOP3B, TPST2, UBE2L3, UPB1, VPREB1, VPREB3, YDJC, YPEL1, ZDHHC8P1, ZNF280A, ZNF280B, ZNF70
Method
AnalysisSample level sites were merged to generate a set of non-redundant variant regions. Two non-redundant inversion variants (chr 2 positions 89438708-89655419 and 89958869-91208466) were corrected from the original publication for coordinates and associated sample-level data.
PlatformCapillary
Comments
ReferenceKidd et al 2008
Pubmed ID18451855
Accession Number(s)nsv7350
Frequency
Sample Size9
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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