A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17961



Internal ID15491423
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:76516688..76520357hg38UCSC Ensembl
Outerchr7:76516280..76521675hg38UCSC Ensembl
Innerchr7:76146005..76149674hg19UCSC Ensembl
Outerchr7:76145597..76150992hg19UCSC Ensembl
Innerchr7:75983941..75987610hg18UCSC Ensembl
Outerchr7:75983533..75988928hg18UCSC Ensembl
Innerchr7:75790656..75794325hg17UCSC Ensembl
Outerchr7:75790248..75795643hg17UCSC Ensembl
Cytoband7q11.23
Allele length
AssemblyAllele length
hg385396
hg195396
hg185396
hg175396
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8160
Supporting Variants
SamplesNA18860
Known GenesUPK3B
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)nssv17961
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