A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1062928



Internal ID18805459
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21212930..21479947hg38UCSC Ensembl
Innerchr22:21567219..21834236hg19UCSC Ensembl
Innerchr22:19897219..20164236hg18UCSC Ensembl
Cytoband22q11.21
Allele length
AssemblyAllele length
hg38267018
hg19267018
hg18267018
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4487n100
Supporting Variantsnssv3587408, nssv3587409, nssv3731864, nssv3587410
Samples
Known GenesHIC2, PI4KAP2, POM121L8P, RIMBP3B, RIMBP3C, TMEM191C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1062928
Frequency
Sample Size29084
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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