A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1017070



Internal ID18759605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:189847201..189961635hg38UCSC Ensembl
Innerchr4:190768356..190882790hg19UCSC Ensembl
Innerchr4:191005350..191119784hg18UCSC Ensembl
Cytoband4q35.2
Allele length
AssemblyAllele length
hg38114435
hg19114435
hg18114435
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3744558, nssv3744557
Samples
Known GenesFRG1, LOC283788
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1017070
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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