A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062280



Internal ID18804811
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:20963144..21028993hg38UCSC Ensembl
Innerchr22:21317432..21383282hg19UCSC Ensembl
Innerchr22:19647432..19713282hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3865850
hg1965851
hg1865851
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv3587389
Samples
Known GenesAIFM3, LZTR1, P2RX6, SLC7A4, THAP7, THAP7-AS1, TUBA3FP
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062280
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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