A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517442



Internal ID15444735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43276976..43277636hg38UCSC Ensembl
Innerchr6:43244714..43245374hg19UCSC Ensembl
Innerchr6:43352692..43353352hg18UCSC Ensembl
Innerchr6:43352692..43353352hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg38661
hg19661
hg18661
hg17661
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv655676, nssv675453, nssv652029, nssv679328, nssv666056, nssv665050, nssv657028, nssv658686, nssv660742, nssv686962, nssv687730, nssv679410, nssv654651, nssv683148, nssv663764, nssv668978, nssv681748, nssv689877, nssv680923, nssv676023, nssv693298, nssv686170, nssv675851, nssv692950, nssv677033, nssv665675, nssv677514, nssv657214, nssv689025, nssv658696
Samples
Known GenesTTBK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517442
Frequency
Sample Size2026
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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