A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053943



Internal ID19143162
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842179..7952475hg38UCSC Ensembl
Innerchr12:7994775..8105071hg19UCSC Ensembl
Innerchr12:7886042..7996338hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38110297
hg19110297
hg18110297
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1355n100
Supporting Variantsnssv3522415, nssv3503724, nssv3522200, nssv3708088, nssv3521179, nssv3518720, nssv3509774, nssv3503933, nssv3511011
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)nsv1053943
Frequency
Sample Size11257
Observed Gain8
Observed Loss1
Observed Complex0
Frequencyn/a


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