A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv11299n54



Internal ID20144723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:44226585..44227484hg38UCSC Ensembl
chr7:44266184..44267083hg19UCSC Ensembl
chr7:44232709..44233608hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38900
hg19900
hg18900
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv606757, nsv606758
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)dgv11299n54
Frequency
Sample Size17421
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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