A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606790



Internal ID16047513
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227100..44227268hg38UCSC Ensembl
Innerchr7:44266699..44266867hg19UCSC Ensembl
Innerchr7:44233224..44233392hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38169
hg19169
hg18169
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1083500
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606790
Frequency
Sample Size17421
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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