A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578219



Internal ID16018942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1131175..1138215hg38UCSC Ensembl
Innerchr19:1131174..1138214hg19UCSC Ensembl
Innerchr19:1082174..1089214hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg387041
hg197041
hg187041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6186n54
Supporting Variantsnssv891591
Samples
Known GenesSBNO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578219
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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