A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580329



Internal ID16021052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54790359..54866553hg38UCSC Ensembl
Innerchr19:55301811..55378008hg19UCSC Ensembl
Innerchr19:59993623..60069820hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3876195
hg1976198
hg1876198
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1150373
SamplesNINDS_159
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, KIR3DL2, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580329
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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