A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606794



Internal ID16047517
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:44227100..44227535hg38UCSC Ensembl
Innerchr7:44266699..44267134hg19UCSC Ensembl
Innerchr7:44233224..44233659hg18UCSC Ensembl
Cytoband7p13
Allele length
AssemblyAllele length
hg38436
hg19436
hg18436
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11307n54
Supporting Variantsnssv1083531, nssv1083533, nssv1083532
Samples
Known GenesCAMK2B
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606794
Frequency
Sample Size17421
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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