A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1040610



Internal ID18783141
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9968689..10026775hg38UCSC Ensembl
Innerchr12:10121288..10179374hg19UCSC Ensembl
Innerchr12:10012555..10070641hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3858087
hg1958087
hg1858087
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1374n100
Supporting Variantsnssv3507812
Samples
Known GenesCLEC12A, CLEC12B, CLEC1B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1040610
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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