A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548335



Internal ID15989058
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:179638247..179638749hg38UCSC Ensembl
Innerchr1:179607382..179607884hg19UCSC Ensembl
Innerchr1:177874005..177874507hg18UCSC Ensembl
Cytoband1q25.2
Allele length
AssemblyAllele length
hg38503
hg19503
hg18503
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv655n54
Supporting Variantsnssv729386
Samples
Known GenesTDRD5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548335
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