A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1429n100



Internal ID20153045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:32718926..32775899hg38UCSC Ensembl
chr12:32871860..32928833hg19UCSC Ensembl
chr12:32763127..32820100hg18UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg3856974
hg1956974
hg1856974
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1042661, nsv1051667
Samples
Known GenesDNM1L, YARS2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1429n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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