A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546358



Internal ID15987081
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59584607..59586253hg38UCSC Ensembl
Innerchr1:60050279..60051925hg19UCSC Ensembl
Innerchr1:59822867..59824513hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381647
hg191647
hg181647
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv294n54
Supporting Variantsnssv715475
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546358
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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