A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1053975



Internal ID19143194
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9481262..9583090hg38UCSC Ensembl
Innerchr12:9633858..9735686hg19UCSC Ensembl
Innerchr12:9525125..9626953hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38101829
hg19101829
hg18101829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1373n100
Supporting Variantsnssv3520815, nssv3507540, nssv3518873, nssv3516407, nssv3506812, nssv3512296, nssv3508683, nssv3516162, nssv3508605, nssv3522553, nssv3517651
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1053975
Frequency
Sample Size11257
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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