A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442019



Internal ID15154052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:162317536..162319408hg38UCSC Ensembl
Innerchr6:162738568..162740440hg19UCSC Ensembl
Innerchr6:162658558..162660430hg18UCSC Ensembl
Innerchr6:162708979..162710851hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg381873
hg191873
hg181873
hg171873
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658219, nssv1658216, nssv1658221, nssv1658220, nssv1658218, nssv1658217
SamplesNA18949, NA18990, NA18991, NA18537, NA18564, NA18995
Known GenesPARK2
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)nsv442019
Frequency
Sample Size270
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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