A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv576340



Internal ID16363749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:5294903..5296401hg38UCSC Ensembl
Innerchr18:5294902..5296400hg19UCSC Ensembl
Innerchr18:5284902..5286400hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv5826n54
Supporting Variantsnssv877611, nssv877610
Samples
Known GenesZBTB14
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv576340
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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