A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv1622169



Internal ID15464362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:75377956..75496025hg38UCSC Ensembl
Innerchr3:75427107..75545176hg19UCSC Ensembl
Innerchr3:75509797..75627866hg18UCSC Ensembl
Innerchr3:75509797..75627866hg17UCSC Ensembl
Cytoband3p12.3
Allele length
AssemblyAllele length
hg38118070
hg19118070
hg18118070
hg17118070
Variant TypeCNV loss
Copy Number1
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv442862
Supporting Variants
SamplesNA12144
Known GenesFAM86DP
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)nssv1622169
Frequency
Sample Size270
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer