A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv451602



Internal ID18273408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144041826..144722291hg38UCSC Ensembl
Innerchr8:145096727..145947676hg19UCSC Ensembl
Innerchr8:145168715..145918485hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38680466
hg19850950
hg18749771
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv428208
Supporting Variants
SamplesHGDP00467
Known GenesADCK5, ARHGAP39, BOP1, C8orf82, CPSF1, CYC1, CYHR1, DGAT1, EXOSC4, FAM203A, FBXL6, FOXH1, GPAA1, GPT, HSF1, KIAA1875, KIFC2, LOC100287098, LRRC14, LRRC24, MAF1, MFSD3, MIR1234, MIR6846, MIR6847, MIR6848, MIR6849, MIR6893, MIR7112-2, MIR939, MROH1, OPLAH, PPP1R16A, RECQL4, SCRT1, SCXA, SCXB, SHARPIN, SLC39A4, SLC52A2, SPATC1, TMEM249, TONSL, VPS28, ZNF251
MethodBAC aCGH
AnalysisCopy number variable segments were automatically detected using the CNVfinder algorithm (Fiegler et al. 2006).
PlatformSanger H. sapiens Whole Genome Tile Path 28.7k v3
Comments
ReferencePerry_et_al_2008b
Pubmed ID18775914
Accession Number(s)nssv451602
Frequency
Sample Size62
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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