A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1042106



Internal ID18784637
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:9968689..10025037hg38UCSC Ensembl
Innerchr12:10121288..10177636hg19UCSC Ensembl
Innerchr12:10012555..10068903hg18UCSC Ensembl
Cytoband12p13.2
Allele length
AssemblyAllele length
hg3856349
hg1956349
hg1856349
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1374n100
Supporting Variantsnssv3516812, nssv3505181
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)nsv1042106
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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