A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059417



Internal ID18801948
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:52159127..52200548hg38UCSC Ensembl
Innerchr19:52662380..52703801hg19UCSC Ensembl
Innerchr19:57354192..57395613hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg3841422
hg1941422
hg1841422
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3575038, nssv3575037
Samples
Known GenesPPP2R1A, ZNF836
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1059417
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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