A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564180



Internal ID16004903
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:31489360..31899728hg38UCSC Ensembl
Innerchr14:31958566..32368934hg19UCSC Ensembl
Innerchr14:31028317..31438685hg18UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg38410369
hg19410369
hg18410369
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3607n54
Supporting Variantsnssv825143
Samples
Known GenesNUBPL
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564180
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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