A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548285



Internal ID15989008
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179360764..179365799hg38UCSC Ensembl
Innerchr1:179329899..179334934hg19UCSC Ensembl
Innerchr1:177596522..177601557hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg385036
hg195036
hg185036
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv645n54
Supporting Variantsnssv729216
Samples
Known GenesAXDND1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548285
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