A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060536



Internal ID18803067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1228266..1329640hg38UCSC Ensembl
Innerchr19:1228265..1329639hg19UCSC Ensembl
Innerchr19:1179265..1280639hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38101375
hg19101375
hg18101375
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564601
Samples
Known GenesATP5D, C19orf24, C19orf26, CIRBP, CIRBP-AS1, EFNA2, MIDN, STK11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060536
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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