A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv547418



Internal ID16334827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:108825322..108828577hg38UCSC Ensembl
Innerchr1:109367944..109371199hg19UCSC Ensembl
Innerchr1:109169467..109172722hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg383256
hg193256
hg183256
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv488n54
Supporting Variantsnssv721123
Samples
Known GenesAKNAD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv547418
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