A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv18298



Internal ID15842495
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12727248..12749026hg38UCSC Ensembl
Outerchr9:12725201..12750152hg38UCSC Ensembl
Innerchr9:12727247..12749025hg19UCSC Ensembl
Outerchr9:12725200..12750151hg19UCSC Ensembl
Innerchr9:12717247..12739025hg18UCSC Ensembl
Outerchr9:12715200..12740151hg18UCSC Ensembl
Innerchr9:12717247..12739025hg17UCSC Ensembl
Outerchr9:12715200..12740151hg17UCSC Ensembl
Cytoband9p23
Allele length
AssemblyAllele length
hg3824952
hg1924952
hg1824952
hg1724952
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8420
Supporting Variants
SamplesNA19144
Known Genes
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)nssv18298
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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