A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548356



Internal ID15989079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:181088551..181089404hg38UCSC Ensembl
Innerchr1:181057687..181058540hg19UCSC Ensembl
Innerchr1:179324310..179325163hg18UCSC Ensembl
Cytoband1q25.3
Allele length
AssemblyAllele length
hg38854
hg19854
hg18854
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv729735
Samples
Known GenesIER5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548356
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