A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584612



Internal ID16372021
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:227712947..227742640hg38UCSC Ensembl
Innerchr2:228577663..228607356hg19UCSC Ensembl
Innerchr2:228285907..228315600hg18UCSC Ensembl
Cytoband2q36.3
Allele length
AssemblyAllele length
hg3829694
hg1929694
hg1829694
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv7322n54
Supporting Variantsnssv933324
Samples
Known GenesSLC19A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584612
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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