A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062388



Internal ID18804919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30253190..30315454hg38UCSC Ensembl
Innerchr22:30649179..30711443hg19UCSC Ensembl
Innerchr22:28979179..29041443hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3862265
hg1962265
hg1862265
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600805
Samples
Known GenesGATSL3, OSM, TBC1D10A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062388
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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