A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv584549



Internal ID16025272
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:223436179..223828699hg38UCSC Ensembl
Innerchr2:224300897..224693416hg19UCSC Ensembl
Innerchr2:224009141..224401660hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38392521
hg19392520
hg18392520
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv932589
Samples
Known GenesAP1S3, SCG2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv584549
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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