A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1065122



Internal ID18807653
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:17570790..17610826hg38UCSC Ensembl
Innerchr22:18050855..18093592hg19UCSC Ensembl
Innerchr22:16430855..16473592hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg3840037
hg1942738
hg1842738
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4464n100
Supporting Variantsnssv3589330, nssv3731799, nssv3589329
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)nsv1065122
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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