A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7350



Internal ID8519333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr22:21325960..27250706hg38UCSC Ensembl
Outerchr22:21680249..27646667hg19UCSC Ensembl
Outerchr22:20010249..25976667hg18UCSC Ensembl
Outerchr22:20004803..25971221hg17UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg385924747
hg195966419
hg185966419
hg175966419
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
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, ADORA2A-AS1, ADRBK2, ASPHD2, BCR, BCRP3, BMS1P20, C22orf15, C22orf43, CABIN1, CCDC116, CES5AP1, CHCHD10, CRYBA4, CRYBB1, CRYBB2, CRYBB2P1, CRYBB3, DDT, DDTL, DERL3, FAM211B, FBXW4P1, GGT1, GGT5, GGTLC2, GNAZ, GSTT1, GSTT2, GSTT2B, GSTTP1, GSTTP2, GUCD1, GUSBP11, HIC2, HPS4, IGLL1, IGLL3P, IGLL5, KIAA1671, LOC100128531, LOC284889, LOC391322, LOC648691, LRP5L, MAPK1, MIAT, MIF, MIR1302-1, MIR130B, MIR301B, MIR548J, MIR650, MIR6817, MMP11, MYO18B, PI4KAP2, PIWIL3, POM121L10P, POM121L1P, POM121L9P, PPIL2, PPM1F, PRAME, RAB36, RGL4, RIMBP3B, RIMBP3C, RTDR1, SDF2L1, SEZ6L, SGSM1, SLC2A11, SMARCB1, SNRPD3, SPECC1L, SPECC1L-ADORA2A, SRRD, SUSD2, TFIP11, TMEM191C, TMEM211, TOP1P2, TOP3B, TPST2, UBE2L3, UPB1, VPREB1, VPREB3, YDJC, YPEL1, ZDHHC8P1, ZNF280A, ZNF280B, ZNF70
MethodSequencing
AnalysisEnd-sequence pairs were mapped to the human genome assembly (hg17) using a previously described algorithm (Tuzun et al 2005)
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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