A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548370



Internal ID15989093
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:182808616..182817818hg38UCSC Ensembl
Innerchr1:182777751..182786953hg19UCSC Ensembl
Innerchr1:181044374..181053576hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg389203
hg199203
hg189203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729765
Samples
Known GenesNPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548370
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