A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv601148



Internal ID16388557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:24322059..24326368hg38UCSC Ensembl
Innerchr6:24322287..24326596hg19UCSC Ensembl
Innerchr6:24430266..24434575hg18UCSC Ensembl
Cytoband6p22.2
Allele length
AssemblyAllele length
hg384310
hg194310
hg184310
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10327n54
Supporting Variantsnssv1051246
Samples
Known GenesDCDC2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv601148
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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