A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548476



Internal ID16335885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:188781770..188881730hg38UCSC Ensembl
Innerchr1:188750901..188850861hg19UCSC Ensembl
Innerchr1:187017524..187117484hg18UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg3899961
hg1999961
hg1899961
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv678n54
Supporting Variantsnssv732516, nssv732515
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548476
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer