A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv442925



Internal ID15154958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:155673116..155676843hg38UCSC Ensembl
Innerchr4:156594268..156597995hg19UCSC Ensembl
Innerchr4:156813718..156817445hg18UCSC Ensembl
Innerchr4:156951873..156955600hg17UCSC Ensembl
Cytoband4q32.1
Allele length
AssemblyAllele length
hg383728
hg193728
hg183728
hg173728
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv1627171, nssv1627168, nssv1627164, nssv1627163, nssv1627167, nssv1627169, nssv1627170, nssv1627166, nssv1627165
SamplesNA19192, NA18966, NA18521, NA18505, NA19161, NA19239, NA18522, NA19138, NA19160
Known GenesGUCY1A3
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)nsv442925
Frequency
Sample Size270
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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