A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14099452



Internal ID21289800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:54171966..54172960hg38UCSC Ensembl
Innerchr18:51698336..51699330hg19UCSC Ensembl
Cytoband18q21.2
Allele length
AssemblyAllele length
hg38995
hg19995
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv3111307
Supporting Variants
Samplessample51
Known GenesMBD2
MethodOligo aCGH
Analysis
Platform
Comments
ReferenceLu_et_al_2017
Pubmed ID28705883
Accession Number(s)nssv14099452
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