A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14089593



Internal ID21276720
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:60949356..60956903hg38UCSC Ensembl
Innerchr1:61415028..61422575hg19UCSC Ensembl
Cytoband1p31.3
Allele length
AssemblyAllele length
hg387548
hg197548
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3117184
Supporting Variants
Samplessample241
Known Genes
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14089593
Frequency
Sample Size467
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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