A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1048258



Internal ID18790789
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:39970608..41209299hg38UCSC Ensembl
Innerchr12:40364410..41603101hg19UCSC Ensembl
Innerchr12:38650677..39889368hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg381238692
hg191238692
hg181238692
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3523493
Samples
Known GenesCNTN1, LRRK2, MUC19, PDZRN4, SLC2A13
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1048258
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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