A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606783



Internal ID16047506
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44226995..44229186hg38UCSC Ensembl
Innerchr7:44266594..44268785hg19UCSC Ensembl
Innerchr7:44233119..44235310hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg382192
hg192192
hg182192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11301n54
Supporting Variantsnssv1083443, nssv1083442
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606783
Frequency
Sample Size17421
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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