A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1064350



Internal ID18806881
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:30328159..30346136hg38UCSC Ensembl
Innerchr22:30724148..30742125hg19UCSC Ensembl
Innerchr22:29054148..29072125hg18UCSC Ensembl
Cytoband22q12.2
Allele length
AssemblyAllele length
hg3817978
hg1917978
hg1817978
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3600806
Samples
Known GenesSF3A1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1064350
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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