A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055408



Internal ID18797939
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:42733612..42873123hg38UCSC Ensembl
Innerchr19:43237764..43377275hg19UCSC Ensembl
Innerchr19:47929604..48069115hg18UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38139512
hg19139512
hg18139512
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3551n100
Supporting Variantsnssv3722789
Samples
Known GenesLOC100289650, PSG1, 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)nsv1055408
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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