A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548279



Internal ID15989002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179354784..179421013hg38UCSC Ensembl
Innerchr1:179323919..179390148hg19UCSC Ensembl
Innerchr1:177590542..177656771hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg3866230
hg1966230
hg1866230
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729155
Samples
Known GenesAXDND1, SOAT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548279
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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