A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546198



Internal ID16333607
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:49450176..49532567hg38UCSC Ensembl
Innerchr1:49915848..49998239hg19UCSC Ensembl
Innerchr1:49688435..49770826hg18UCSC Ensembl
Cytoband1p33
Allele length
AssemblyAllele length
hg3882392
hg1982392
hg1882392
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv265n54
Supporting Variantsnssv712969, nssv712968
Samples
Known GenesAGBL4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546198
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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