A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548590



Internal ID16335999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:191648952..191698783hg38UCSC Ensembl
Innerchr1:191618082..191667913hg19UCSC Ensembl
Innerchr1:189884705..189934536hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3849832
hg1949832
hg1849832
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732605
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548590
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