A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055030



Internal ID19144249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9474630..9582362hg38UCSC Ensembl
Innerchr12:9627226..9734958hg19UCSC Ensembl
Innerchr12:9518493..9626225hg18UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg38107733
hg19107733
hg18107733
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1373n100
Supporting Variantsnssv3514397, nssv3517264
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)nsv1055030
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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