A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060113



Internal ID18802644
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786419..54862351hg38UCSC Ensembl
Innerchr19:55297871..55373806hg19UCSC Ensembl
Innerchr19:59989683..60065618hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3875933
hg1975936
hg1875936
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3726631
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1060113
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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