A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549429



Internal ID16336838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238839721..238955619hg38UCSC Ensembl
Innerchr1:239003021..239118919hg19UCSC Ensembl
Innerchr1:237069644..237185542hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg38115899
hg19115899
hg18115899
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738869
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549429
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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