A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv441992



Internal ID15500711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:35537534..35597034hg38UCSC Ensembl
Innerchr6:35505311..35564811hg19UCSC Ensembl
Innerchr6:35613289..35672789hg18UCSC Ensembl
Innerchr6:35613289..35672789hg17UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3859501
hg1959501
hg1859501
hg1759501
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1658083, nssv1658084, nssv1658085, nssv1658082
SamplesNA19172, NA19200, NA19202, NA19173
Known GenesFKBP5
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)nsv441992
Frequency
Sample Size270
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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