A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442809



Internal ID15501528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:76917036..76920658hg38UCSC Ensembl
InnerchrX:76137461..76141083hg19UCSC Ensembl
InnerchrX:76053855..76057477hg18UCSC Ensembl
InnerchrX:75920151..75923773hg17UCSC Ensembl
CytobandXq21.1
Allele length
AssemblyAllele length
hg383623
hg193623
hg183623
hg173623
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1655321, nssv1655320, nssv1655322
SamplesNA10854, NA12864, NA12873
Known GenesMIR384
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)nsv442809
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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