A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3681748



Internal ID18633343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:12024338..12616361hg38UCSC Ensembl
Innerchr8:11881847..12473870hg19UCSC Ensembl
Innerchr8:11919256..12518241hg18UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38592024
hg19592024
hg18598986
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1031187
Supporting Variants
Samples
Known GenesDEFB109P1, DEFB130, FAM66A, FAM66D, FAM86B1, FAM86B2, FAM90A25P, FAM90A2P, LOC100133267, LOC100506990, LOC392196, LOC649352, LOC729732, USP17L2, USP17L7, ZNF705D
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3681748
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