A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1057609



Internal ID18800140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23925904..23995743hg38UCSC Ensembl
Innerchr22:24268091..24337937hg19UCSC Ensembl
Innerchr22:22598091..22667937hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3869840
hg1969847
hg1869847
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4532n100
Supporting Variantsnssv3586535
Samples
Known GenesDDT, DDTL, GSTT2, GSTT2B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)nsv1057609
Frequency
Sample Size29084
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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