A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv559922



Internal ID16347331
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:98888178..98927693hg38UCSC Ensembl
Innerchr12:99281956..99321471hg19UCSC Ensembl
Innerchr12:97806087..97845602hg18UCSC Ensembl
Cytoband12q23.1
Allele length
AssemblyAllele length
hg3839516
hg1939516
hg1839516
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2817n54
Supporting Variantsnssv801300
Samples
Known GenesANKS1B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv559922
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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