A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041916



Internal ID19131135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7855191..7952475hg38UCSC Ensembl
Innerchr12:8007787..8105071hg19UCSC Ensembl
Innerchr12:7899054..7996338hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3897285
hg1997285
hg1897285
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1354n100
Supporting Variantsnssv3508782
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)nsv1041916
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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