A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559976



Internal ID16000699
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:99895704..99897556hg38UCSC Ensembl
Innerchr12:100289482..100291334hg19UCSC Ensembl
Innerchr12:98813613..98815465hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg381853
hg191853
hg181853
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2828n54
Supporting Variantsnssv801507, nssv801502, nssv801508, nssv801503, nssv801505, nssv801509, nssv801510, nssv801506, nssv801504, nssv801501
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559976
Frequency
Sample Size17421
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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