A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559945



Internal ID16000668
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99401714..99408730hg38UCSC Ensembl
Innerchr12:99795492..99802508hg19UCSC Ensembl
Innerchr12:98319623..98326639hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg387017
hg197017
hg187017
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2822n54
Supporting Variantsnssv801454, nssv801452, nssv801453, nssv801449, nssv801451, nssv801450
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559945
Frequency
Sample Size17421
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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