A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442020



Internal ID15500739
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167934596..168195235hg38UCSC Ensembl
Innerchr6:168335276..168595915hg19UCSC Ensembl
Innerchr6:168078125..168338764hg18UCSC Ensembl
Innerchr6:168153832..168414471hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38260640
hg19260640
hg18260640
hg17260640
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658225, nssv1658223, nssv1658224, nssv1658222
SamplesNA12802, NA12815, NA12249, NA06985
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)nsv442020
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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