A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1655143



Internal ID15471353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:35612892..35615668hg38UCSC Ensembl
InnerchrX:35631009..35633785hg19UCSC Ensembl
InnerchrX:35540930..35543706hg18UCSC Ensembl
InnerchrX:35390666..35393442hg17UCSC Ensembl
CytobandXp21.1
Allele length
AssemblyAllele length
hg382777
hg192777
hg182777
hg172777
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442802
Supporting Variants
SamplesNA18505
Known Genes
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)nssv1655143
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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