A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483078



Internal ID15235552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:8771366..8892364hg38UCSC Ensembl
Innerchr19:8882042..9003040hg19UCSC Ensembl
Cytoband19p13.2
Allele length
AssemblyAllele length
hg38120999
hg19120999
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2996070, nssv2996148, nssv2996394, nssv2996219, nssv2996224, nssv2996551, nssv2996347, nssv2996452, nssv2996543, nssv2996186, nssv2996365, nssv2995926, nssv2996474, nssv2996054, nssv2995968, nssv2996429, nssv2996150, nssv2996012, nssv2996356, nssv2996327, nssv2996559
Samples
Known GenesMBD3L1, MUC16, ZNF558
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483078
Frequency
Sample Size39
Observed Gain2
Observed Loss19
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer