A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv20758



Internal ID15842363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:238321000..238322988hg38UCSC Ensembl
Outerchr1:238319619..238323559hg38UCSC Ensembl
Innerchr1:238484300..238486288hg19UCSC Ensembl
Outerchr1:238482919..238486859hg19UCSC Ensembl
Innerchr1:236550923..236552911hg18UCSC Ensembl
Outerchr1:236549542..236553482hg18UCSC Ensembl
Innerchr1:234810341..234812329hg17UCSC Ensembl
Outerchr1:234808960..234812900hg17UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg383941
hg193941
hg183941
hg173941
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8968
Supporting Variants
SamplesNA19144
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)nssv20758
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