A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14740



Internal ID15485024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16939287..16954039hg38UCSC Ensembl
Outerchr1:16938705..16954729hg38UCSC Ensembl
Innerchr1:17265782..17280534hg19UCSC Ensembl
Outerchr1:17265200..17281224hg19UCSC Ensembl
Innerchr1:17138369..17153121hg18UCSC Ensembl
Outerchr1:17137787..17153811hg18UCSC Ensembl
Innerchr1:17011088..17025840hg17UCSC Ensembl
Outerchr1:17010506..17026530hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3816025
hg1916025
hg1816025
hg1716025
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA12802
Known GenesCROCC
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)nssv14740
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