A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571719



Internal ID16012442
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:27329738..27339707hg38UCSC Ensembl
Innerchr16:27341059..27351028hg19UCSC Ensembl
Innerchr16:27248560..27258529hg18UCSC Ensembl
Cytoband16p12.1
Allele length
AssemblyAllele length
hg389970
hg199970
hg189970
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4963n54
Supporting Variantsnssv855246, nssv855244, nssv855243, nssv855245
Samples
Known GenesIL4R
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571719
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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