A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3170124



Internal ID21314185
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 Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14242210
SamplesNGO_55
Known GenesELOVL7
MethodSNP array
Analysis
PlatformAffymetrix Genome-wide SNP array 6.0
Comments
ReferenceFu_et_al_2018
Pubmed ID29476164
Accession Number(s)nsv3170124
Frequency
Sample Size93
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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