A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv525187



Internal ID15452480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:43276976..43291349hg38UCSC Ensembl
Innerchr6:43244714..43259087hg19UCSC Ensembl
Innerchr6:43352692..43367065hg18UCSC Ensembl
Innerchr6:43352692..43367065hg17UCSC Ensembl
Cytoband6p21.1
Allele length
AssemblyAllele length
hg3814374
hg1914374
hg1814374
hg1714374
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv701265
Samples
Known GenesTTBK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv525187
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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