A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062047



Internal ID18804578
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54921092..55041328hg38UCSC Ensembl
Innerchr19:55432460..55552696hg19UCSC Ensembl
Innerchr19:60124272..60244508hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38120237
hg19120237
hg18120237
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3570420
Samples
Known GenesGP6, NLRP2, NLRP7, RNU6-35P, RNU6-64P
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062047
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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