A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442496



Internal ID15501215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:31059931..31061985hg38UCSC Ensembl
Innerchr21:32432250..32434304hg19UCSC Ensembl
Innerchr21:31354121..31356175hg18UCSC Ensembl
Innerchr21:31354121..31356175hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg382055
hg192055
hg182055
hg172055
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1660604, nssv1660603, nssv1660602, nssv1660601, nssv1660605
SamplesNA19192, NA19200, NA19194, NA19202, NA19101
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)nsv442496
Frequency
Sample Size270
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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