A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1019376



Internal ID18761910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12130205..12670907hg38UCSC Ensembl
Innerchr8:11987714..12528416hg19UCSC Ensembl
Innerchr8:12025123..12572787hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38540703
hg19540703
hg18547665
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7019n100
Supporting Variantsnssv3681888
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC649352, LOC729732, USP17L2, USP17L7
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1019376
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