A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1649893



Internal ID15130248
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:75524185..75542101hg38UCSC Ensembl
Innerchr16:75558083..75575999hg19UCSC Ensembl
Innerchr16:74115584..74133500hg18UCSC Ensembl
Innerchr16:74115584..74133500hg17UCSC Ensembl
Cytoband16q23.1
Allele length
AssemblyAllele length
hg3817917
hg1917917
hg1817917
hg1717917
Variant TypeCNV gain
Copy Number3
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442728
Supporting Variants
SamplesNA18579
Known GenesCHST5, TMEM231
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)nssv1649893
Frequency
Sample Size270
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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