A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057901



Internal ID18800432
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:38621846..38683692hg38UCSC Ensembl
Innerchr19:39112486..39174332hg19UCSC Ensembl
Innerchr19:43804326..43866172hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3861847
hg1961847
hg1861847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3724535
Samples
Known GenesACTN4, EIF3K
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057901
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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