A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1617101



Internal ID15485760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:109681762..109700331hg38UCSC Ensembl
Innerchr1:110224384..110242953hg19UCSC Ensembl
Innerchr1:110025907..110044476hg18UCSC Ensembl
Innerchr1:109936426..109954995hg17UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3818570
hg1918570
hg1818570
hg1718570
Variant TypeCNV loss
Copy Number0
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442967
Supporting Variants
SamplesNA18965
Known GenesGSTM1, GSTM2
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)nssv1617101
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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