A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11302n54



Internal ID20144726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44226739..44227374hg38UCSC Ensembl
chr7:44266338..44266973hg19UCSC Ensembl
chr7:44232863..44233498hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38636
hg19636
hg18636
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606762, nsv606767
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11302n54
Frequency
Sample Size17421
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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