A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1654361



Internal ID15111271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:23940829..23998591hg38UCSC Ensembl
Innerchr22:24283016..24340785hg19UCSC Ensembl
Innerchr22:22613016..22670785hg18UCSC Ensembl
Innerchr22:22607570..22665339hg17UCSC Ensembl
Cytoband22q11.23
Allele length
AssemblyAllele length
hg3857763
hg1957770
hg1857770
hg1757770
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442792
Supporting Variants
SamplesNA07055
Known GenesDDT, DDTL, GSTT2, GSTT2B, GSTTP1
MethodSNP array
AnalysisWe used two computational approaches to identify CNVs: the hidden Markov model Birdseye, and an approach based on correlation between nearby probes across a population sample. To maximize the quality of reported findings, we ran duplicate experiments in independent labs, and report the CNVs that were observed in both experiments, in the same samples and at essentially identical genomic locations.
Platform[GenomeWideSNP_6] Affymetrix Genome-Wide Human SNP 6.0 Array
Comments
ReferenceMcCarroll_et_al_2008
Pubmed ID18776908
Accession Number(s)nssv1654361
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer