A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600838



Internal ID16388247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3143886..3146800hg38UCSC Ensembl
Innerchr6:3144120..3147034hg19UCSC Ensembl
Innerchr6:3089119..3092033hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382915
hg192915
hg182915
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10273n54
Supporting Variantsnssv1048679
Samples
Known GenesBPHL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600838
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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