A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv514863



Internal ID15813222
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:32916026..32921078hg38UCSC Ensembl
Innerchr18:30495990..30501042hg19UCSC Ensembl
Innerchr18:28749988..28755040hg18UCSC Ensembl
Cytoband18q12.1
Allele length
AssemblyAllele length
hg385053
hg195053
hg185053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2836188, nssv2836187, nssv2836189, nssv2836186, nssv2836185
SamplesNA12891, NA12878, NA19108, NA19147, NA19148
Known Genes
MethodOligo aCGH
AnalysisADM2 threshold = 5
PlatformAgilent Eichler Human CNP 180K v3.0
Comments
ReferenceCampbell_et_al_2011
Pubmed ID21397061
Accession Number(s)nsv514863
Frequency
Sample Size2366
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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