A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14242210



Internal ID21310114
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr5:60790400..60836057hg38UCSC Ensembl
Outerchr5:60783995..60839683hg38UCSC Ensembl
Innerchr5:60086227..60131884hg19UCSC Ensembl
Outerchr5:60079822..60135510hg19UCSC Ensembl
Innerchr5:60121984..60167641hg18UCSC Ensembl
Outerchr5:60115579..60171267hg18UCSC Ensembl
Cytoband5q12.1
Allele length
AssemblyAllele length
hg3855689
hg1955689
hg1855689
Variant TypeCNV duplication
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3170124
Supporting Variants
SamplesNGO_55
Known GenesELOVL7
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nssv14242210
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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