A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18277297



Internal ID20844337
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 StatusS
Merged Variantsnsv6558782
Supporting Variants
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)nssv18277297
Frequency
Sample Size19652
Observed Gain0
Observed Loss0
Observed Complex0
Frequency0


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