A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv600848



Internal ID16041571
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:3254222..3255032hg38UCSC Ensembl
Innerchr6:3254456..3255266hg19UCSC Ensembl
Innerchr6:3199455..3200265hg18UCSC Ensembl
Cytoband6p25.2
Allele length
AssemblyAllele length
hg38811
hg19811
hg18811
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10275n54
Supporting Variantsnssv1048689, nssv1048690
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv600848
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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