A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571173



Internal ID16011896
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:1767596..1780436hg38UCSC Ensembl
Innerchr16:1817597..1830437hg19UCSC Ensembl
Innerchr16:1757598..1770438hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg3812841
hg1912841
hg1812841
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv852070
Samples
Known GenesEME2, MAPK8IP3, MRPS34, NME3, SPSB3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571173
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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