A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442801



Internal ID15501520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
InnerchrX:16454101..16459833hg38UCSC Ensembl
InnerchrX:16472224..16477956hg19UCSC Ensembl
InnerchrX:16382145..16387877hg18UCSC Ensembl
InnerchrX:16231881..16237613hg17UCSC Ensembl
CytobandXp22.2
Allele length
AssemblyAllele length
hg385733
hg195733
hg185733
hg175733
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1655138, nssv1655140, nssv1655135, nssv1655139, nssv1655136, nssv1655137
SamplesNA10854, NA19159, NA19161, NA19093, NA18854, NA18852
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)nsv442801
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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