A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1055551



Internal ID18798082
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23929462..23982670hg38UCSC Ensembl
Innerchr22:24271649..24324861hg19UCSC Ensembl
Innerchr22:22601649..22654861hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3853209
hg1953213
hg1853213
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4534n100
Supporting Variantsnssv3586549
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)nsv1055551
Frequency
Sample Size29084
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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