A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv546240



Internal ID15986963
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53084515..53134406hg38UCSC Ensembl
Innerchr1:53550187..53600078hg19UCSC Ensembl
Innerchr1:53322775..53372666hg18UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg3849892
hg1949892
hg1849892
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv713078
Samples
Known GenesPODN, SLC1A7
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv546240
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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