A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1001790



Internal ID18744321
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:4920733..5083198hg38UCSC Ensembl
Innerchr4:4922460..5084925hg19UCSC Ensembl
Innerchr4:4973361..5135826hg18UCSC Ensembl
Cytoband4p16.2
Allele length
AssemblyAllele length
hg38162466
hg19162466
hg18162466
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5094n100
Supporting Variantsnssv3738141
Samples
Known GenesCYTL1, STK32B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1001790
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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