A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8400



Internal ID15499626
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr9:10001..51412hg38UCSC Ensembl
Outerchr9:10001..51412hg19UCSC Ensembl
Outerchr9:1..41412hg18UCSC Ensembl
Outerchr9:1..41412hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3841412
hg1941412
hg1841412
hg1741412
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv19977, nssv19993, nssv19971, nssv20624, nssv21750, nssv16330
SamplesNA18504, NA12802, NA18860, NA19221, NA19132, NA18517
Known GenesDDX11L5, FAM138C, WASH1
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)nsv8400
Frequency
Sample Size31
Observed Gain5
Observed Loss1
Observed Complex0
Frequencyn/a


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