A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546359



Internal ID15987082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59584607..59586404hg38UCSC Ensembl
Innerchr1:60050279..60052076hg19UCSC Ensembl
Innerchr1:59822867..59824664hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381798
hg191798
hg181798
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv294n54
Supporting Variantsnssv715476
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546359
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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