A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600837



Internal ID16388246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3143886..3146438hg38UCSC Ensembl
Innerchr6:3144120..3146672hg19UCSC Ensembl
Innerchr6:3089119..3091671hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg382553
hg192553
hg182553
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10273n54
Supporting Variantsnssv1048678
Samples
Known GenesBPHL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600837
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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