A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv551947



Internal ID16339356
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:94394510..94403212hg38UCSC Ensembl
Innerchr10:96154267..96162969hg19UCSC Ensembl
Innerchr10:96144257..96152959hg18UCSC Ensembl
Cytoband10q23.33
Allele length
AssemblyAllele length
hg388703
hg198703
hg188703
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv755880, nssv755879
Samples
Known GenesTBC1D12
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv551947
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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