A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053644



Internal ID19142863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851817..7982484hg38UCSC Ensembl
Innerchr12:8004413..8135080hg19UCSC Ensembl
Innerchr12:7895680..8026347hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38130668
hg19130668
hg18130668
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1355n100
Supporting Variantsnssv3502959, nssv3506569, nssv3708210, nssv3516463, nssv3506726
Samples
Known GenesSLC2A14, SLC2A3
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053644
Frequency
Sample Size11257
Observed Gain3
Observed Loss2
Observed Complex0
Frequencyn/a


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