A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050662



Internal ID19139881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59051185..59132661hg38UCSC Ensembl
Innerchr12:59444966..59526442hg19UCSC Ensembl
Innerchr12:57731233..57812709hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3881477
hg1981477
hg1881477
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1508n100
Supporting Variantsnssv3523626
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)nsv1050662
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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