A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1039996



Internal ID19129215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:59162293..59251525hg38UCSC Ensembl
Innerchr12:59556074..59645306hg19UCSC Ensembl
Innerchr12:57842341..57931573hg18UCSC Ensembl
Cytoband12q14.1
Allele length
AssemblyAllele length
hg3889233
hg1989233
hg1889233
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523629, nssv3712492
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)nsv1039996
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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