A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv701265



Internal ID15437917
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv525187
Supporting Variants
Samples
Known GenesTTBK1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nssv701265
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