A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546884



Internal ID16334293
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:98987731..99062363hg38UCSC Ensembl
Innerchr1:99453287..99527919hg19UCSC Ensembl
Innerchr1:99225875..99300507hg18UCSC Ensembl
Cytoband1p21.3
Allele length
AssemblyAllele length
hg3874633
hg1974633
hg1874633
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv719661
Samples
Known GenesLOC100129620, LPPR5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546884
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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