A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv595398



Internal ID16382807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:128853220..129006649hg38UCSC Ensembl
Innerchr4:129774375..129927804hg19UCSC Ensembl
Innerchr4:129993825..130147254hg18UCSC Ensembl
Cytoband4q28.2
Allele length
AssemblyAllele length
hg38153430
hg19153430
hg18153430
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv9261n54
Supporting Variantsnssv1006252
Samples
Known GenesJADE1, SCLT1
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv595398
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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