A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442813



Internal ID15154846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:110695452..110697069hg38UCSC Ensembl
InnerchrX:109938680..109940297hg19UCSC Ensembl
InnerchrX:109825336..109826953hg18UCSC Ensembl
InnerchrX:109744825..109746442hg17UCSC Ensembl
CytobandXq22.3
Allele length
AssemblyAllele length
hg381618
hg191618
hg181618
hg171618
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1655342, nssv1655341, nssv1655344, nssv1655343, nssv1655340
SamplesNA19127, NA18523, NA18501, NA19160, NA10854
Known GenesCHRDL1
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)nsv442813
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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