A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3682677



Internal ID18980958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12374760..12555281hg38UCSC Ensembl
Innerchr8:12232269..12412790hg19UCSC Ensembl
Innerchr8:12276640..12457161hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38180522
hg19180522
hg18180522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1023891
Supporting Variants
Samples
Known GenesDEFB109P1, FAM66A, FAM86B2, FAM90A25P, 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)nssv3682677
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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