A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1060713



Internal ID18803244
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54787116..54868049hg38UCSC Ensembl
Innerchr19:55298568..55379504hg19UCSC Ensembl
Innerchr19:59990380..60071316hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3880934
hg1980937
hg1880937
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3676n100
Supporting Variantsnssv3570383
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)nsv1060713
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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