A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1056045



Internal ID18798576
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:21960705..22219039hg38UCSC Ensembl
Innerchr22:22315077..22573431hg19UCSC Ensembl
Innerchr22:20645077..20903431hg18UCSC Ensembl
Cytoband22q11.22
Allele length
AssemblyAllele length
hg38258335
hg19258355
hg18258355
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4496n100
Supporting Variantsnssv3731945
Samples
Known GenesTOP3B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1056045
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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