A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523670



Internal ID18821951
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 StatusS
Merged Variantsnsv1050821
Supporting Variants
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)nssv3523670
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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