A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23254



Internal ID15843974
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:137451133..137452287hg38UCSC Ensembl
Outerchr9:137449953..137452560hg38UCSC Ensembl
Innerchr9:140345585..140346739hg19UCSC Ensembl
Outerchr9:140344405..140347012hg19UCSC Ensembl
Innerchr9:139465406..139466560hg18UCSC Ensembl
Outerchr9:139464226..139466833hg18UCSC Ensembl
Innerchr9:137621422..137622576hg17UCSC Ensembl
Outerchr9:137620242..137622849hg17UCSC Ensembl
Cytoband9q34.3
Allele length
AssemblyAllele length
hg382608
hg192608
hg182608
hg172608
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8586
Supporting Variants
SamplesNA19221
Known GenesMIR7114, NSMF
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)nssv23254
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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