A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546345



Internal ID15987068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583126..59584477hg38UCSC Ensembl
Innerchr1:60048798..60050149hg19UCSC Ensembl
Innerchr1:59821386..59822737hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381352
hg191352
hg181352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv289n54
Supporting Variantsnssv715444
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546345
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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