A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19547



Internal ID15489192
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:45896156..45901654hg38UCSC Ensembl
Outerchr10:45895544..45902104hg38UCSC Ensembl
Innerchr10:51694172..51699670hg19UCSC Ensembl
Outerchr10:51693722..51700282hg19UCSC Ensembl
Innerchr10:51364178..51369676hg18UCSC Ensembl
Outerchr10:51363728..51370288hg18UCSC Ensembl
Innerchr10:51364178..51369676hg17UCSC Ensembl
Outerchr10:51363728..51370288hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg386561
hg196561
hg186561
hg176561
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8654
Supporting Variants
SamplesNA18563
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)nssv19547
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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