A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1059379



Internal ID18801910
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54736516..54836508hg38UCSC Ensembl
Innerchr19:55247983..55347963hg19UCSC Ensembl
Innerchr19:59939795..60039775hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3899993
hg1999981
hg1899981
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3666n100
Supporting Variantsnssv3726581, nssv3574591
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)nsv1059379
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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