A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv557289



Internal ID16344698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7844294..7990870hg38UCSC Ensembl
Innerchr12:7996890..8143466hg19UCSC Ensembl
Innerchr12:7888157..8034733hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38146577
hg19146577
hg18146577
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv2329n54
Supporting Variantsnssv1175810, nssv1175809
SamplesHGDP01326, HGDP01188
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv557289
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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