A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv549372



Internal ID16336781
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:234478347..234480776hg38UCSC Ensembl
Innerchr1:234614093..234616522hg19UCSC Ensembl
Innerchr1:232680716..232683145hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg382430
hg192430
hg182430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv738148
Samples
Known GenesTARBP1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv549372
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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