A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546329



Internal ID16333738
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59583022..59583907hg38UCSC Ensembl
Innerchr1:60048694..60049579hg19UCSC Ensembl
Innerchr1:59821282..59822167hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38886
hg19886
hg18886
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv286n54
Supporting Variantsnssv715298, nssv715304, nssv715306, nssv715313, nssv715302, nssv715300, nssv715312, nssv715307, nssv715299, nssv715301, nssv715305, nssv715310, nssv715311, nssv715309, nssv715303, nssv715308
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546329
Frequency
Sample Size17421
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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