A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546351



Internal ID15987074
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59584189..59585926hg38UCSC Ensembl
Innerchr1:60049861..60051598hg19UCSC Ensembl
Innerchr1:59822449..59824186hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381738
hg191738
hg181738
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv291n54
Supporting Variantsnssv715459, nssv715460
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546351
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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