A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1025071



Internal ID18767603
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:144044224..144300847hg38UCSC Ensembl
Innerchr8:145099125..145524530hg19UCSC Ensembl
Innerchr8:145171113..145495338hg18UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38256624
hg19425406
hg18324226
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3690118
Samples
Known GenesBOP1, CYC1, EXOSC4, FAM203A, GPAA1, HSF1, KIAA1875, MAF1, MIR6846, MIR6847, MIR7112-2, MROH1, OPLAH, SCXA, SCXB, SHARPIN, SPATC1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1025071
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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