A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557321



Internal ID16344730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7869336..7938107hg38UCSC Ensembl
Innerchr12:8021932..8090703hg19UCSC Ensembl
Innerchr12:7913199..7981970hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3868772
hg1968772
hg1868772
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2336n54
Supporting Variantsnssv787414
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557321
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