A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv21704



Internal ID15834284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:48177597..48179091hg38UCSC Ensembl
Outerchr10:48177002..48179774hg38UCSC Ensembl
Innerchr10:49385640..49387134hg19UCSC Ensembl
Outerchr10:49385045..49387817hg19UCSC Ensembl
Innerchr10:49055646..49057140hg18UCSC Ensembl
Outerchr10:49055051..49057823hg18UCSC Ensembl
Innerchr10:49055646..49057140hg17UCSC Ensembl
Outerchr10:49055051..49057823hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382773
hg192773
hg182773
hg172773
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8639
Supporting Variants
SamplesNA18517
Known GenesFRMPD2
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)nssv21704
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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