A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv516323



Internal ID15096930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:4851838..4856682hg38UCSC Ensembl
Innerchr19:4851850..4856694hg19UCSC Ensembl
Innerchr19:4802850..4807694hg18UCSC Ensembl
Innerchr19:4802850..4807694hg17UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg384845
hg194845
hg184845
hg174845
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv667572, nssv698228, nssv676422
Samples
Known GenesPLIN3
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv516323
Frequency
Sample Size2026
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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