A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020485



Internal ID18763020
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:86154955..86318644hg38UCSC Ensembl
Innerchr8:87167184..87330873hg19UCSC Ensembl
Innerchr8:87236300..87399989hg18UCSC Ensembl
Cytoband8q21.3
Allele length
AssemblyAllele length
hg38163690
hg19163690
hg18163690
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7263n100
Supporting Variantsnssv3689675
Samples
Known GenesSLC7A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020485
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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