A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv548662



Internal ID16336071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:193752013..193835079hg38UCSC Ensembl
Innerchr1:193721143..193804209hg19UCSC Ensembl
Innerchr1:191987766..192070832hg18UCSC Ensembl
Cytoband1q31.2
Allele length
AssemblyAllele length
hg3883067
hg1983067
hg1883067
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv732830
Samples
Known Genes
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv548662
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