A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv578442



Internal ID16019165
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4236999..4312106hg38UCSC Ensembl
Innerchr19:4236996..4312103hg19UCSC Ensembl
Innerchr19:4187996..4263103hg18UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg3875108
hg1975108
hg1875108
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv892917
Samples
Known GenesCCDC94, EBI3, FSD1, SHD, TMIGD2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv578442
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