A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv517901



Internal ID15098508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:47373953..47444971hg38UCSC Ensembl
Innerchr19:47877210..47948228hg19UCSC Ensembl
Innerchr19:52569010..52640040hg18UCSC Ensembl
Innerchr19:52569010..52640040hg17UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3871019
hg1971019
hg1871031
hg1771031
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv695310
Samples
Known GenesDHX34, MEIS3, SLC8A2
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv517901
Frequency
Sample Size2026
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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