A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606792



Internal ID16047515
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227100..44227374hg38UCSC Ensembl
Innerchr7:44266699..44266973hg19UCSC Ensembl
Innerchr7:44233224..44233498hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38275
hg19275
hg18275
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11308n54
Supporting Variantsnssv1083510, nssv1083509
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606792
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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