A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1027853



Internal ID18770384
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12305218..12545643hg38UCSC Ensembl
Innerchr8:12162727..12403152hg19UCSC Ensembl
Innerchr8:12207096..12447523hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38240426
hg19240426
hg18240428
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7032n100
Supporting Variantsnssv3682034
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM86B2, FAM90A25P, LOC100133267, LOC100506990, LOC649352, LOC729732
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1027853
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