A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058155



Internal ID18800686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17577691..17610826hg38UCSC Ensembl
Innerchr22:18058736..18093592hg19UCSC Ensembl
Innerchr22:16438736..16473592hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3833136
hg1934857
hg1834857
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4464n100
Supporting Variantsnssv3589333, nssv3589334, nssv3589336, nssv3589335
Samples
Known GenesATP6V1E1, SLC25A18
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1058155
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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