A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242012



Internal ID21302919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:86819561..86823329hg38UCSC Ensembl
Outerchr5:86815939..86825812hg38UCSC Ensembl
Innerchr5:86115378..86119146hg19UCSC Ensembl
Outerchr5:86111756..86121629hg19UCSC Ensembl
Innerchr5:86151134..86154902hg18UCSC Ensembl
Outerchr5:86147512..86157385hg18UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg389874
hg199874
hg189874
Variant TypeCNV deletion
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3169589
Supporting Variants
SamplesMLY_2
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242012
Frequency
Sample Size93
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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