A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064918



Internal ID18807449
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:48024325..48077885hg38UCSC Ensembl
Innerchr19:48527582..48581142hg19UCSC Ensembl
Innerchr19:53219394..53272954hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3853561
hg1953561
hg1853561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3611n100
Supporting Variantsnssv3574930
Samples
Known GenesCABP5, ELSPBP1, PLA2G4C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064918
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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