A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578244



Internal ID16018967
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:1137454..1138268hg38UCSC Ensembl
Innerchr19:1137453..1138267hg19UCSC Ensembl
Innerchr19:1088453..1089267hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38815
hg19815
hg18815
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6193n54
Supporting Variantsnssv891724
Samples
Known GenesSBNO2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578244
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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