A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv571809



Internal ID16012532
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:29434150..29476076hg38UCSC Ensembl
Innerchr16:29445471..29487397hg19UCSC Ensembl
Innerchr16:29352972..29394898hg18UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg3841927
hg1941927
hg1841927
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv855481
Samples
Known GenesBOLA2, BOLA2B, LOC388242, LOC606724, LOC613038, SLX1A, SLX1A-SULT1A3, SLX1B, SLX1B-SULT1A4, SULT1A3, SULT1A4
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv571809
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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