A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050757



Internal ID19139976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:30135946..30176209hg38UCSC Ensembl
Innerchr12:30288879..30329142hg19UCSC Ensembl
Innerchr12:30180146..30220409hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg3840264
hg1940264
hg1840264
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1409n100
Supporting Variantsnssv3517274
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)nsv1050757
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer