A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606789



Internal ID16047512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227100..44227212hg38UCSC Ensembl
Innerchr7:44266699..44266811hg19UCSC Ensembl
Innerchr7:44233224..44233336hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083498, nssv1083496, nssv1083495, nssv1083497, nssv1083499
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606789
Frequency
Sample Size17421
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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