A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580000



Internal ID16020723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:51784199..52104512hg38UCSC Ensembl
Innerchr19:52287452..52607765hg19UCSC Ensembl
Innerchr19:56979264..57299577hg18UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38320314
hg19320314
hg18320314
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6523n54
Supporting Variantsnssv1150140, nssv1150141
Samples1780854257_A, 1780862390_A
Known GenesFPR3, HCCAT3, ZNF350, ZNF432, ZNF577, ZNF613, ZNF614, ZNF615, ZNF649, ZNF841
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580000
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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