A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1050821



Internal ID19140040
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:63512689..63726850hg38UCSC Ensembl
Innerchr12:63906469..64120630hg19UCSC Ensembl
Innerchr12:62192736..62406897hg18UCSC Ensembl
Cytoband12q14.2
Allele length
AssemblyAllele length
hg38214162
hg19214162
hg18214162
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1516n100
Supporting Variantsnssv3523670
Samples
Known GenesDPY19L2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1050821
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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