A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041812



Internal ID19131031
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851817..7965561hg38UCSC Ensembl
Innerchr12:8004413..8118157hg19UCSC Ensembl
Innerchr12:7895680..8009424hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38113745
hg19113745
hg18113745
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1355n100
Supporting Variantsnssv3515500, nssv3514366, nssv3520609, nssv3521743, nssv3519754, nssv3503713, nssv3516177, nssv3708123, nssv3512013, nssv3514612, nssv3519625, nssv3519422, nssv3517314, nssv3509870, nssv3517476, nssv3508204, nssv3504329, nssv3515624
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)nsv1041812
Frequency
Sample Size11257
Observed Gain15
Observed Loss3
Observed Complex0
Frequencyn/a


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