A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1020948



Internal ID19110166
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:8229622..8288477hg38UCSC Ensembl
Innerchr8:8087144..8145999hg19UCSC Ensembl
Innerchr8:8124554..8183409hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg3858856
hg1958856
hg1858856
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7002n100
Supporting Variantsnssv3681659, nssv3754221, nssv3681655, nssv3681660, nssv3681656, nssv3754222, nssv3681658, nssv3681657, nssv3754223
Samples
Known GenesFAM86B3P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1020948
Frequency
Sample Size11257
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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