A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058625



Internal ID19147844
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:16384224..16550182hg38UCSC Ensembl
Innerchr22:16864886..17031072hg19UCSC Ensembl
Innerchr22:15244886..15411072hg18UCSC Ensembl
Cytoband22q11.1
Allele length
AssemblyAllele length
hg38165959
hg19166187
hg18166187
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4457n100
Supporting Variantsnssv3731783, nssv3589277
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)nsv1058625
Frequency
Sample Size11257
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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