A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23056



Internal ID15843790
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:126217891..126224086hg38UCSC Ensembl
Outerchr9:126217288..126224539hg38UCSC Ensembl
Innerchr9:128980170..128986365hg19UCSC Ensembl
Outerchr9:128979567..128986818hg19UCSC Ensembl
Innerchr9:128019991..128026186hg18UCSC Ensembl
Outerchr9:128019388..128026639hg18UCSC Ensembl
Innerchr9:126059724..126065919hg17UCSC Ensembl
Outerchr9:126059121..126066372hg17UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg387252
hg197252
hg187252
hg177252
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8568
Supporting Variants
SamplesNA19221
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)nssv23056
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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