A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1043125



Internal ID18785656
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9968689..10024438hg38UCSC Ensembl
Innerchr12:10121288..10177037hg19UCSC Ensembl
Innerchr12:10012555..10068304hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3855750
hg1955750
hg1855750
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1374n100
Supporting Variantsnssv3514829
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)nsv1043125
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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