A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548468



Internal ID16335877
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188505292..188582278hg38UCSC Ensembl
Innerchr1:188474423..188551409hg19UCSC Ensembl
Innerchr1:186741046..186818032hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3876987
hg1976987
hg1876987
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv730684
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548468
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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