A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559980



Internal ID16000703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99895704..99898242hg38UCSC Ensembl
Innerchr12:100289482..100292020hg19UCSC Ensembl
Innerchr12:98813613..98816151hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg382539
hg192539
hg182539
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2829n54
Supporting Variantsnssv801628, nssv801629, nssv801627, nssv801630
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559980
Frequency
Sample Size17421
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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