A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv570940



Internal ID16011663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:173122..177397hg38UCSC Ensembl
Innerchr16:223121..227396hg19UCSC Ensembl
Innerchr16:163121..167396hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg384276
hg194276
hg184276
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv851284
Samples
Known GenesHBA1, HBA2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv570940
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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