A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6417121



Internal ID21074674
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143683447..144365810hg38UCSC Ensembl
chr8:144765617..145589470hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38682364
hg19823854
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7527n223
Supporting Variantsnssv18225092
Samples
Known GenesBOP1, BREA2, CCDC166, CYC1, DGAT1, EPPK1, EXOSC4, FAM203A, FAM83H, FAM83H-AS1, FBXL6, GPAA1, GRINA, HSF1, KIAA1875, MAF1, MAPK15, MIR4664, MIR661, MIR6845, MIR6846, MIR6847, MIR6848, MIR7112-2, MIR937, MROH1, NRBP2, OPLAH, PARP10, PLEC, PUF60, SCRIB, SCRT1, SCXA, SCXB, SHARPIN, SLC52A2, SPATC1, TMEM249, ZNF707
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6417121
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer