A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3712633



Internal ID19010914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:129006365..129027187hg38UCSC Ensembl
Innerchr12:129490910..129511732hg19UCSC Ensembl
Innerchr12:128056863..128077685hg18UCSC Ensembl
Cytoband12q24.32
Allele length
AssemblyAllele length
hg3820823
hg1920823
hg1820823
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1039917
Supporting Variants
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)nssv3712633
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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