A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441981



Internal ID15500700
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:4170292..4174062hg38UCSC Ensembl
Innerchr6:4170526..4174296hg19UCSC Ensembl
Innerchr6:4115525..4119295hg18UCSC Ensembl
Innerchr6:4115525..4119295hg17UCSC Ensembl
Cytoband6p25.1
Allele length
AssemblyAllele length
hg383771
hg193771
hg183771
hg173771
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658034, nssv1658033, nssv1658035
SamplesNA18855, NA18857, NA19102
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)nsv441981
Frequency
Sample Size270
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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