A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580326



Internal ID16021049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr19:54786400..54834969hg38UCSC Ensembl
Innerchr19:55297852..55346424hg19UCSC Ensembl
Innerchr19:59989664..60038236hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg3848570
hg1948573
hg1848573
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv901784, nssv901783
Samples
Known GenesKIR2DL4, KIR2DS4, KIR3DL1, LOC100287534
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580326
Frequency
Sample Size17421
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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