A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1067308



Internal ID18809839
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736516..54835875hg38UCSC Ensembl
Innerchr19:55247983..55347330hg19UCSC Ensembl
Innerchr19:59939795..60039142hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3899360
hg1999348
hg1899348
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3666n100
Supporting Variantsnssv3574590
Samples
Known GenesKIR2DL1, KIR2DL3, KIR2DL4, KIR2DS4, KIR3DL1, 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)nsv1067308
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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