A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559929



Internal ID16000652
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98894644..98895444hg38UCSC Ensembl
Innerchr12:99288422..99289222hg19UCSC Ensembl
Innerchr12:97812553..97813353hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg38801
hg19801
hg18801
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv801330
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559929
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer