A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv1058843



Internal ID18801374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23940817..23988015hg38UCSC Ensembl
Innerchr22:24283004..24330206hg19UCSC Ensembl
Innerchr22:22613004..22660206hg18UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3847199
hg1947203
hg1847203
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4534n100
Supporting Variantsnssv3733240, nssv3586554, nssv3586550, nssv3586551, nssv3586553, nssv3586552
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)nsv1058843
Frequency
Sample Size29084
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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