A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1061979



Internal ID18804510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736428..54852057hg38UCSC Ensembl
Innerchr19:55247895..55363512hg19UCSC Ensembl
Innerchr19:59939707..60055324hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38115630
hg19115618
hg18115618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3667n100
Supporting Variantsnssv3574575
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, KIR3DL3, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1061979
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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