A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548458



Internal ID16335867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188281070..188410297hg38UCSC Ensembl
Innerchr1:188250201..188379428hg19UCSC Ensembl
Innerchr1:186516824..186646051hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38129228
hg19129228
hg18129228
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv730671
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548458
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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