A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv10785



Internal ID15845748
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179634616..179635567hg38UCSC Ensembl
Outerchr5:179061617..179062568hg19UCSC Ensembl
Outerchr5:178994223..178995174hg18UCSC Ensembl
Outerchr5:178994223..178995174hg17UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38952
hg19952
hg18952
hg17952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv14286, nssv13682, nssv14463, nssv15583, nssv13875, nssv13577
SamplesNA07029, NA18504, NA18563, NA07048, NA10863, NA18537
Known Genes
MethodOligo aCGH
AnalysisStatistical threshold = 5.0, minimum +/- log2 ratio = 0.25 and minimum number of probes = 2
PlatformAgilent-015686 Custom Human 244K CGH Microarray
Comments
ReferencePerry_et_al_2008
Pubmed ID18304495
Accession Number(s)nsv10785
Frequency
Sample Size31
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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