A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580342



Internal ID16367751
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:55037190..55055144hg38UCSC Ensembl
Innerchr19:55548558..55566512hg19UCSC Ensembl
Innerchr19:60240370..60258324hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3817955
hg1917955
hg1817955
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901808
Samples
Known GenesGP6, RDH13
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580342
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