A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17093



Internal ID15492687
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16650178..16655705hg38UCSC Ensembl
Outerchr1:16649547..16656468hg38UCSC Ensembl
Innerchr1:16976673..16982200hg19UCSC Ensembl
Outerchr1:16976042..16982963hg19UCSC Ensembl
Innerchr1:16849260..16854787hg18UCSC Ensembl
Outerchr1:16848629..16855550hg18UCSC Ensembl
Innerchr1:16721979..16727506hg17UCSC Ensembl
Outerchr1:16721348..16728269hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg386922
hg196922
hg186922
hg176922
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18972
Known GenesMST1P2
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)nssv17093
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