A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1633166



Internal ID15500006
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:6814479..6824452hg38UCSC Ensembl
Innerchr7:6854110..6864083hg19UCSC Ensembl
Innerchr7:6820635..6830608hg18UCSC Ensembl
Innerchr7:6627350..6637323hg17UCSC Ensembl
Cytoband7p22.1
Allele length
AssemblyAllele length
hg389974
hg199974
hg189974
hg179974
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv441808
Supporting Variants
SamplesNA19238
Known GenesCCZ1B
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)nssv1633166
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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