A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv483072



Internal ID15235546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:24074769..24269273hg38UCSC Ensembl
Innerchr22:24470718..24665241hg19UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg38194505
hg19194524
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv2995901, nssv2996493, nssv2996540
Samples
Known GenesCABIN1, GGT5, POM121L9P, SUSD2
MethodBAC aCGH
Analysis
PlatformSpectral Genomics 2600 BAC array
Comments
ReferenceIafrate_et_al_2004
Pubmed ID15286789
Accession Number(s)nsv483072
Frequency
Sample Size39
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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