A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11300n54



Internal ID20144724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44226585..44227535hg38UCSC Ensembl
chr7:44266184..44267134hg19UCSC Ensembl
chr7:44232709..44233659hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38951
hg19951
hg18951
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606761, nsv606770, nsv606764, nsv606769, nsv606759
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11300n54
Frequency
Sample Size17421
Observed Gain92
Observed Loss15
Observed Complex0
Frequencyn/a


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