A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3570383



Internal ID18521978
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 StatusS
Merged Variantsnsv1060713
Supporting Variants
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)nssv3570383
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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