A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19971



Internal ID15491894
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:12044..37671hg38UCSC Ensembl
Outerchr9:10001..40829hg38UCSC Ensembl
Innerchr9:12044..37671hg19UCSC Ensembl
Outerchr9:10001..40829hg19UCSC Ensembl
Innerchr9:2044..27671hg18UCSC Ensembl
Outerchr9:1..30829hg18UCSC Ensembl
Innerchr9:2044..27671hg17UCSC Ensembl
Outerchr9:1..30829hg17UCSC Ensembl
Cytoband9p24.3
Allele length
AssemblyAllele length
hg3830829
hg1930829
hg1830829
hg1730829
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8400
Supporting Variants
SamplesNA18860
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)nssv19971
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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