A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1044854



Internal ID19134073
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31125097..31264445hg38UCSC Ensembl
Innerchr12:31278031..31417379hg19UCSC Ensembl
Innerchr12:31169298..31308646hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38139349
hg19139349
hg18139349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1419n100
Supporting Variantsnssv3511358
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)nsv1044854
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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