A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042967



Internal ID18785498
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:40235834..40316517hg38UCSC Ensembl
Innerchr12:40629636..40710319hg19UCSC Ensembl
Innerchr12:38915903..38996586hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg3880684
hg1980684
hg1880684
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523494
Samples
Known GenesLRRK2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1042967
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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