A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6556944



Internal ID20930015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:130985407..137050712hg38UCSC Ensembl
chr9:133860794..139945164hg19UCSC Ensembl
Cytoband9q34.12
Allele length
AssemblyAllele length
hg386065306
hg196084371
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18280062
Samples
Known GenesABCA2, ABO, ADAMTS13, ADAMTSL2, AGPAT2, AIF1L, AK8, BARHL1, BRD3, C8G, C9orf116, C9orf139, C9orf142, C9orf163, C9orf171, C9orf172, C9orf62, C9orf69, C9orf9, C9orf96, CACFD1, CAMSAP1, CARD9, CCDC183, CCDC183-AS1, CEL, CELP, CLIC3, COL5A1, DBH, DBH-AS1, DDX31, DKFZP434A062, DNLZ, EDF1, EGFL7, ENTPD2, FAM163B, FAM69B, FAM78A, FBXW5, FCN1, FCN2, FUT7, GBGT1, GFI1B, GLT6D1, GPSM1, GTF3C4, GTF3C5, INPP5E, KCNT1, LAMC3, LCN1, LCN10, LCN12, LCN15, LCN6, LCN8, LCN9, LCNL1, LHX3, LINC00094, LOC100128593, LOC100130954, LOC101448202, LOC401557, MAMDC4, MED22, MED27, MIR126, MIR3689A, MIR3689B, MIR3689C, MIR3689D1, MIR3689D2, MIR3689E, MIR3689F, MIR4292, MIR4479, MIR4669, MIR4673, MIR4674, MIR6722, MIR6877, MRPS2, NACC2, NOTCH1, NPDC1, NTNG2, NUP214, OBP2A, OBP2B, OLFM1, PAEP, PHPT1, PMPCA, POMT1, PPAPDC3, PPP1R26, PPP1R26-AS1, PRRC2B, PTGDS, QSOX2, RABL6, RALGDS, RAPGEF1, REXO4, RNU6ATAC, RPL7A, RXRA, SARDH, SDCCAG3, SEC16A, SETX, SLC2A6, SNAPC4, SNHG7, SNORA17, SNORA43, SNORD24, SNORD36A, SNORD36B, SNORD36C, SNORD62A, SNORD62B, SOHLH1, SURF1, SURF2, SURF4, SURF6, TMEM141, TMEM8C, TRAF2, TSC1, TTF1, UBAC1, UCK1, VAV2, WDR5
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6556944
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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