A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059395



Internal ID18801926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:34430094..34499592hg38UCSC Ensembl
Innerchr19:34920999..34990497hg19UCSC Ensembl
Innerchr19:39612839..39682337hg18UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg3869499
hg1969499
hg1869499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3566588
Samples
Known GenesUBA2, WTIP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059395
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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