A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546356



Internal ID15987079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59584477..59586078hg38UCSC Ensembl
Innerchr1:60050149..60051750hg19UCSC Ensembl
Innerchr1:59822737..59824338hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg381602
hg191602
hg181602
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv294n54
Supporting Variantsnssv715471
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546356
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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