A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12042



Internal ID15832822
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:107984248..107987620hg38UCSC Ensembl
Outerchr3:107983280..107988332hg38UCSC Ensembl
Innerchr3:107703095..107706467hg19UCSC Ensembl
Outerchr3:107702127..107707179hg19UCSC Ensembl
Innerchr3:109185785..109189157hg18UCSC Ensembl
Outerchr3:109184817..109189869hg18UCSC Ensembl
Innerchr3:109185785..109189157hg17UCSC Ensembl
Outerchr3:109184817..109189869hg17UCSC Ensembl
Cytoband3q13.12
Allele length
AssemblyAllele length
hg385053
hg195053
hg185053
hg175053
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10305
Supporting Variants
SamplesNA18502
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)nssv12042
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