A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1038008



Internal ID18780539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:130928831..131167119hg38UCSC Ensembl
Innerchr12:131413376..131651664hg19UCSC Ensembl
Innerchr12:129979329..130217617hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38238289
hg19238289
hg18238289
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3526209
Samples
Known GenesGPR133, LOC116437
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1038008
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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