A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7527n223



Internal ID22810495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143683447..144567758hg38UCSC Ensembl
chr8:144765617..145793142hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38884312
hg191027526
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv6430241, nsv6417121
Samples
Known GenesADCK5, ARHGAP39, BOP1, BREA2, C8orf82, CCDC166, CPSF1, CYC1, CYHR1, DGAT1, EPPK1, EXOSC4, FAM203A, FAM83H, FAM83H-AS1, FBXL6, FOXH1, GPAA1, GPT, GRINA, HSF1, KIAA1875, KIFC2, LOC100287098, LRRC14, LRRC24, MAF1, MAPK15, MFSD3, MIR1234, MIR4664, MIR661, MIR6845, MIR6846, MIR6847, MIR6848, MIR6849, MIR6893, MIR7112-2, MIR937, MIR939, MROH1, NRBP2, OPLAH, PARP10, PLEC, PPP1R16A, PUF60, RECQL4, SCRIB, SCRT1, SCXA, SCXB, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28, ZNF707
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)dgv7527n223
Frequency
Sample Size19652
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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