A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv24331



Internal ID15828797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr17:46088388..46702662hg38UCSC Ensembl
Outerchr17:46087818..46709397hg38UCSC Ensembl
Innerchr17:44165754..44780028hg19UCSC Ensembl
Outerchr17:44165184..44786763hg19UCSC Ensembl
Innerchr17:41521572..42135210hg18UCSC Ensembl
Outerchr17:41521002..42141946hg18UCSC Ensembl
Innerchr17:41521572..42135210hg17UCSC Ensembl
Outerchr17:41521002..42141946hg17UCSC Ensembl
Cytoband17q21.31
Allele length
AssemblyAllele length
hg38621580
hg19621580
hg18620945
hg17620945
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9564
Supporting Variants
SamplesNA10839
Known GenesARL17A, ARL17B, KANSL1, KANSL1-AS1, LOC644172, LRRC37A, LRRC37A2, NSF, NSFP1
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)nssv24331
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer