A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16997



Internal ID15489199
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:4527748..4530549hg38UCSC Ensembl
Outerchr9:4526442..4566030hg38UCSC Ensembl
Innerchr9:4527748..4530549hg19UCSC Ensembl
Outerchr9:4526442..4566030hg19UCSC Ensembl
Innerchr9:4517748..4520549hg18UCSC Ensembl
Outerchr9:4516442..4556030hg18UCSC Ensembl
Innerchr9:4517748..4520549hg17UCSC Ensembl
Outerchr9:4516442..4556030hg17UCSC Ensembl
Cytoband9p24.2
Allele length
AssemblyAllele length
hg3839589
hg1939589
hg1839589
hg1739589
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8407
Supporting Variants
SamplesNA18563
Known GenesSLC1A1
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)nssv16997
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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