A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1041335



Internal ID19130554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130582622..130695842hg38UCSC Ensembl
Innerchr12:131067167..131180387hg19UCSC Ensembl
Innerchr12:129633120..129746340hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38113221
hg19113221
hg18113221
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1578n100
Supporting Variantsnssv3526200
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)nsv1041335
Frequency
Sample Size11257
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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