A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580130



Internal ID16367539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54053325..54056773hg38UCSC Ensembl
Innerchr19:54556579..54560027hg19UCSC Ensembl
Innerchr19:59248391..59251839hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg383449
hg193449
hg183449
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6543n54
Supporting Variantsnssv901326, nssv901325
Samples
Known GenesVSTM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580130
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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