A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6558782



Internal ID20931853
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143001224..145028420hg38UCSC Ensembl
chr8:144082641..146253806hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg382027197
hg192171166
Variant TypeOTHER inversion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18277297
Samples
Known GenesADCK5, ARHGAP39, BOP1, BREA2, C8orf31, C8orf82, CCDC166, COMMD5, CPSF1, CYC1, CYHR1, DGAT1, EEF1D, EPPK1, EXOSC4, FAM203A, FAM83H, FAM83H-AS1, FBXL6, FOXH1, GLI4, GPAA1, GPIHBP1, GPT, GRINA, GSDMD, HSF1, KIAA1875, KIFC2, LOC100133669, LOC100287098, LRRC14, LRRC24, LY6E, LY6H, MAF1, MAFA, MAPK15, MFSD3, MIR1234, MIR4664, MIR661, MIR6845, MIR6846, MIR6847, MIR6848, MIR6849, MIR6850, MIR6893, MIR7112-2, MIR937, MIR939, MROH1, MROH6, NAPRT1, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, PYCRL, RECQL4, RHPN1, RHPN1-AS1, RPL8, SCRIB, SCRT1, SCXA, SCXB, SHARPIN, SLC39A4, SLC52A2, SPATC1, TIGD5, TMED10P1, TMEM249, TONSL, TOP1MT, TSTA3, VPS28, ZC3H3, ZFP41, ZNF16, ZNF250, ZNF251, ZNF252P, ZNF252P-AS1, ZNF34, ZNF517, ZNF623, ZNF696, ZNF7, ZNF707
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6558782
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequencyn/a


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