A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559981



Internal ID16000704
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99895704..99898943hg38UCSC Ensembl
Innerchr12:100289482..100292721hg19UCSC Ensembl
Innerchr12:98813613..98816852hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg383240
hg193240
hg183240
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2829n54
Supporting Variantsnssv801631
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559981
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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