A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv580920



Internal ID16368329
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:9304549..9306224hg38UCSC Ensembl
Innerchr2:9444678..9446353hg19UCSC Ensembl
Innerchr2:9362129..9363804hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381676
hg191676
hg181676
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv6684n54
Supporting Variantsnssv903588
Samples
Known GenesASAP2
MethodSNP array
AnalysisIllumina SNP array copy number analysis
PlatformNot reported
Comments
ReferenceCooper_et_al_2011
Pubmed ID21841781
Accession Number(s)nsv580920
Frequency
Sample Size17421
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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