A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571193



Internal ID16011916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:2089563..2095128hg38UCSC Ensembl
Innerchr16:2139564..2145129hg19UCSC Ensembl
Innerchr16:2079565..2085130hg18UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg385566
hg195566
hg185566
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4862n54
Supporting Variantsnssv852084
Samples
Known GenesMIR1225, PKD1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571193
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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