A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv564343



Internal ID16005066
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:35657915..35883117hg38UCSC Ensembl
Innerchr14:36127121..36352323hg19UCSC Ensembl
Innerchr14:35196872..35422074hg18UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg38225203
hg19225203
hg18225203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv825766
Samples
Known GenesBRMS1L, RALGAPA1, RALGAPA1P
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv564343
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