A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580312



Internal ID16021035
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54772775..54775402hg38UCSC Ensembl
Innerchr19:55284227..55286854hg19UCSC Ensembl
Innerchr19:59976039..59978666hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg382628
hg192628
hg182628
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6575n54
Supporting Variantsnssv901765, nssv901764
Samples
Known GenesKIR2DL1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580312
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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