A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv828238



Internal ID16122194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:64128955..64146140hg38UCSC Ensembl
Innerchr14:64595673..64612858hg19UCSC Ensembl
Innerchr14:63665426..63682611hg18UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg3817186
hg1917186
hg1817186
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv564906
Supporting Variants
Samples
Known GenesMIR548AZ, SYNE2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv828238
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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