A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056135



Internal ID18798666
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:48999043..49614598hg38UCSC Ensembl
Innerchr22:49394855..50008246hg19UCSC Ensembl
Innerchr22:47780859..48394250hg18UCSC Ensembl
Cytoband22q13.32
Allele length
AssemblyAllele length
hg38615556
hg19613392
hg18613392
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4590n100
Supporting Variantsnssv3592331, nssv3592330
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056135
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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