A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12627



Internal ID15841782
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:197607643..197647012hg38UCSC Ensembl
Outerchr3:197607246..197647201hg38UCSC Ensembl
Innerchr3:197334514..197373883hg19UCSC Ensembl
Outerchr3:197334117..197374072hg19UCSC Ensembl
Innerchr3:198818911..198858280hg18UCSC Ensembl
Outerchr3:198818514..198858469hg18UCSC Ensembl
Innerchr3:198822824..198862193hg17UCSC Ensembl
Outerchr3:198822427..198862382hg17UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3839956
hg1939956
hg1839956
hg1739956
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10401
Supporting Variants
SamplesNA19132
Known GenesLOC220729
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)nssv12627
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