A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3639052



Internal ID18937333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:80398880..80545933hg38UCSC Ensembl
Innerchr5:79694699..79841752hg19UCSC Ensembl
Innerchr5:79730455..79877508hg18UCSC Ensembl
Cytoband5q14.1
Allele length
AssemblyAllele length
hg38147054
hg19147054
hg18147054
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1028027
Supporting Variants
Samples
Known GenesFAM151B, ZFYVE16
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nssv3639052
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