A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548331



Internal ID15989054
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179498528..179500118hg38UCSC Ensembl
Innerchr1:179467663..179469253hg19UCSC Ensembl
Innerchr1:177734286..177735876hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg381591
hg191591
hg181591
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729380
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548331
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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