A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14744



Internal ID15487693
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:16761930..16765211hg38UCSC Ensembl
Outerchr1:16761098..16765982hg38UCSC Ensembl
Innerchr1:17088425..17091706hg19UCSC Ensembl
Outerchr1:17087593..17092477hg19UCSC Ensembl
Innerchr1:16961012..16964293hg18UCSC Ensembl
Outerchr1:16960180..16965064hg18UCSC Ensembl
Innerchr1:16833731..16837012hg17UCSC Ensembl
Outerchr1:16832899..16837783hg17UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg384885
hg194885
hg184885
hg174885
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9324
Supporting Variants
SamplesNA18517
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)nssv14744
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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