A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv565508



Internal ID16006231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:87928587..87953938hg38UCSC Ensembl
Innerchr14:88394931..88420282hg19UCSC Ensembl
Innerchr14:87464684..87490035hg18UCSC Ensembl
Cytoband14q31.3
Allele length
AssemblyAllele length
hg3825352
hg1925352
hg1825352
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3840n54
Supporting Variantsnssv832166, nssv832167
Samples
Known GenesGALC
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv565508
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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