A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv518700



Internal ID15099307
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:27792215..27807762hg38UCSC Ensembl
Innerchr22:28188203..28203750hg19UCSC Ensembl
Innerchr22:26518203..26533750hg18UCSC Ensembl
Innerchr22:26512757..26528304hg17UCSC Ensembl
Cytoband22q12.1
Allele length
AssemblyAllele length
hg3815548
hg1915548
hg1815548
hg1715548
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv696150
Samples
Known GenesMN1
MethodSNP array
AnalysisSample-level CNVs
PlatformGPL6434
Comments
ReferenceShaikh_et_al_2009
Pubmed ID19592680
Accession Number(s)nsv518700
Frequency
Sample Size2026
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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