A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26689



Internal ID15841731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:16761977..16762924hg38UCSC Ensembl
Outerchr17:16761381..16763299hg38UCSC Ensembl
Innerchr17:16665291..16666238hg19UCSC Ensembl
Outerchr17:16664695..16666613hg19UCSC Ensembl
Innerchr17:16606016..16606963hg18UCSC Ensembl
Outerchr17:16605420..16607338hg18UCSC Ensembl
Innerchr17:16606016..16606963hg17UCSC Ensembl
Outerchr17:16605420..16607338hg17UCSC Ensembl
Cytoband17p11.2
Allele length
AssemblyAllele length
hg381919
hg191919
hg181919
hg171919
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9497
Supporting Variants
SamplesNA19132
Known GenesCCDC144A
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)nssv26689
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