A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549374



Internal ID16336783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234478405..234480776hg38UCSC Ensembl
Innerchr1:234614151..234616522hg19UCSC Ensembl
Innerchr1:232680774..232683145hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382372
hg192372
hg182372
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738153
Samples
Known GenesTARBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549374
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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