A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv545423



Internal ID16332832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:11749469..11751216hg38UCSC Ensembl
Innerchr1:11809526..11811273hg19UCSC Ensembl
Innerchr1:11732113..11733860hg18UCSC Ensembl
Cytoband1p36.22
Allele length
AssemblyAllele length
hg381748
hg191748
hg181748
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv108n54
Supporting Variantsnssv709942
Samples
Known GenesAGTRAP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv545423
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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