A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548100



Internal ID16335509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:167791494..167797903hg38UCSC Ensembl
Innerchr1:167760731..167767140hg19UCSC Ensembl
Innerchr1:166027355..166033764hg18UCSC Ensembl
Cytoband1q24.2
Allele length
AssemblyAllele length
hg386410
hg196410
hg186410
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv613n54
Supporting Variantsnssv727727
Samples
Known GenesMPZL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548100
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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