A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv606475



Internal ID16047198
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:28534721..28535389hg38UCSC Ensembl
Innerchr7:28574339..28575007hg19UCSC Ensembl
Innerchr7:28540864..28541532hg18UCSC Ensembl
Cytoband7p15.1
Allele length
AssemblyAllele length
hg38669
hg19669
hg18669
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv11246n54
Supporting Variantsnssv1081560, nssv1081559
Samples
Known GenesCREB5
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv606475
Frequency
Sample Size17421
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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