A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557335



Internal ID16344744
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:8220848..8224848hg38UCSC Ensembl
Innerchr12:8373444..8377444hg19UCSC Ensembl
Innerchr12:8264711..8268711hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg384001
hg194001
hg184001
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2340n54
Supporting Variantsnssv787428
Samples
Known GenesFAM90A1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557335
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