A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv603013



Internal ID16390422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:47595030..47597816hg38UCSC Ensembl
Innerchr6:47562766..47565552hg19UCSC Ensembl
Innerchr6:47670725..47673511hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg382787
hg192787
hg182787
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv10643n54
Supporting Variantsnssv1058430
Samples
Known GenesCD2AP
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv603013
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer