A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv11785



Internal ID15494062
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16751760..16798107hg38UCSC Ensembl
Innerchr1:17078255..17124602hg19UCSC Ensembl
Innerchr1:16950842..16997189hg18UCSC Ensembl
Innerchr1:16823561..16869908hg17UCSC Ensembl
Outerchr1:16822798..16922326hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3846348
hg1946348
hg1846348
hg1799529
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18980
Known GenesMST1L
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)nssv11785
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