A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1049211



Internal ID18791742
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:31104761..31261539hg38UCSC Ensembl
Innerchr12:31257695..31414473hg19UCSC Ensembl
Innerchr12:31148962..31305740hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38156779
hg19156779
hg18156779
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1417n100
Supporting Variantsnssv3518642, nssv3522154
Samples
Known GenesDDX11
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1049211
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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