A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv594506



Internal ID16035229
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:68183925..68357339hg38UCSC Ensembl
Innerchr4:69049643..69223057hg19UCSC Ensembl
Innerchr4:68732238..68905652hg18UCSC Ensembl
Cytoband4q13.2
Allele length
AssemblyAllele length
hg38173415
hg19173415
hg18173415
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1001802
Samples
Known GenesFTLP10, TMPRSS11B, TMPRSS11BNL, YTHDC1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv594506
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