A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv801994



Internal ID15749264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109713735..109717766hg38UCSC Ensembl
Innerchr12:110151540..110155571hg19UCSC Ensembl
Innerchr12:108635923..108639954hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg384032
hg194032
hg184032
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv560148
Supporting Variants
Samples
Known GenesFAM222A
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nssv801994
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