A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580117



Internal ID16020840
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54052839..54055630hg38UCSC Ensembl
Innerchr19:54556093..54558884hg19UCSC Ensembl
Innerchr19:59247905..59250696hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382792
hg192792
hg182792
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6542n54
Supporting Variantsnssv901195
Samples
Known GenesVSTM1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580117
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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