A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038351



Internal ID19127570
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:7851817..7978362hg38UCSC Ensembl
Innerchr12:8004413..8130958hg19UCSC Ensembl
Innerchr12:7895680..8022225hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38126546
hg19126546
hg18126546
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1355n100
Supporting Variantsnssv3520062, nssv3503659, nssv3509268, nssv3509787, nssv3708201, nssv3708206, nssv3708202, nssv3708204, nssv3509456, nssv3510184, nssv3708199, nssv3516022, nssv3708205, nssv3517169, nssv3517277, nssv3505798, nssv3508879, nssv3708207, nssv3512838, nssv3513544, nssv3708200, nssv3508632, nssv3708209, nssv3522120, nssv3506266, nssv3708208, nssv3517885, nssv3517756, nssv3507351, nssv3513391, nssv3510309, nssv3708198, nssv3515879, nssv3520514, nssv3503826, nssv3708203, nssv3515373, nssv3708197, nssv3505443, nssv3506983, nssv3510999
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)nsv1038351
Frequency
Sample Size11257
Observed Gain36
Observed Loss5
Observed Complex0
Frequencyn/a


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