A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580332



Internal ID16021055
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54791531..54866553hg38UCSC Ensembl
Innerchr19:55302983..55378008hg19UCSC Ensembl
Innerchr19:59994795..60069820hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875023
hg1975026
hg1875026
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6581n54
Supporting Variantsnssv901797, nssv901792, nssv901795, nssv901791, nssv901794, nssv901790, nssv901796, nssv901798, nssv901793, nssv901799
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580332
Frequency
Sample Size17421
Observed Gain2
Observed Loss8
Observed Complex0
Frequencyn/a


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