A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv6430241



Internal ID21087794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:143844521..144567758hg38UCSC Ensembl
chr8:144926693..145793142hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38723238
hg19866450
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7527n223
Supporting Variantsnssv18235731
Samples
Known GenesADCK5, ARHGAP39, BOP1, C8orf82, CPSF1, CYC1, CYHR1, DGAT1, EPPK1, EXOSC4, FAM203A, FBXL6, FOXH1, GPAA1, GPT, GRINA, HSF1, KIAA1875, KIFC2, LOC100287098, LRRC14, LRRC24, MAF1, MFSD3, MIR1234, MIR661, MIR6846, MIR6847, MIR6848, MIR6849, MIR6893, MIR7112-2, MIR939, MROH1, OPLAH, PARP10, PLEC, PPP1R16A, RECQL4, SCRT1, SCXA, SCXB, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28
MethodSequencing
Analysis
Platform
Comments
ReferenceSedlazeck_et_al_2020
Pubmed ID99999999
Accession Number(s)nsv6430241
Frequency
Sample Size19652
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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