A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546354



Internal ID15987077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59584353..59585772hg38UCSC Ensembl
Innerchr1:60050025..60051444hg19UCSC Ensembl
Innerchr1:59822613..59824032hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381420
hg191420
hg181420
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv291n54
Supporting Variantsnssv715469
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546354
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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