A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv3523502



Internal ID18821783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:41637858..41666268hg38UCSC Ensembl
Innerchr12:42031660..42060070hg19UCSC Ensembl
Innerchr12:40317927..40346337hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3828411
hg1928411
hg1828411
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv1040209
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)nssv3523502
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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