A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055783



Internal ID18798314
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:5310636..5495929hg38UCSC Ensembl
Innerchr19:5310647..5495940hg19UCSC Ensembl
Innerchr19:5261647..5446940hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38185294
hg19185294
hg18185294
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3564609
Samples
Known GenesPTPRS, ZNRF4
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1055783
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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