A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557306



Internal ID16344715
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7848316..7970656hg38UCSC Ensembl
Innerchr12:8000912..8123252hg19UCSC Ensembl
Innerchr12:7892179..8014519hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38122341
hg19122341
hg18122341
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2335n54
Supporting Variantsnssv787382
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557306
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