A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060190



Internal ID18802721
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42737348..42858488hg38UCSC Ensembl
Innerchr19:43241500..43362640hg19UCSC Ensembl
Innerchr19:47933340..48054480hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38121141
hg19121141
hg18121141
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3551n100
Supporting Variantsnssv3568678, nssv3722790, nssv3568677, nssv3568679
Samples
Known GenesLOC100289650, PSG10P, PSG3, PSG8
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060190
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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