A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546365



Internal ID16333774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:59640597..59641368hg38UCSC Ensembl
Innerchr1:60106269..60107040hg19UCSC Ensembl
Innerchr1:59878857..59879628hg18UCSC Ensembl
Cytoband1p32.1
Allele length
AssemblyAllele length
hg38772
hg19772
hg18772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv295n54
Supporting Variantsnssv715492, nssv715490, nssv715487, nssv715485, nssv715491, nssv715486, nssv715488, nssv715496, nssv715495, nssv715489, nssv715493, nssv715494
Samples
Known GenesFGGY
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546365
Frequency
Sample Size17421
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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