A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041414



Internal ID19130633
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7842179..7944837hg38UCSC Ensembl
Innerchr12:7994775..8097433hg19UCSC Ensembl
Innerchr12:7886042..7988700hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38102659
hg19102659
hg18102659
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1354n100
Supporting Variantsnssv3508132, nssv3511690, nssv3508344, nssv3517692, nssv3521850
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)nsv1041414
Frequency
Sample Size11257
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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