A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040366



Internal ID19129585
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31849350..31905029hg38UCSC Ensembl
Innerchr12:32002284..32057963hg19UCSC Ensembl
Innerchr12:31893551..31949230hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3855680
hg1955680
hg1855680
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1426n100
Supporting Variantsnssv3507256, nssv3711310, nssv3504853, nssv3711311
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)nsv1040366
Frequency
Sample Size11257
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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