A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16969



Internal ID15836988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46769467..46771045hg38UCSC Ensembl
Outerchr10:46769454..46772011hg38UCSC Ensembl
Innerchr10:46778586..46780151hg19UCSC Ensembl
Outerchr10:46777616..46780164hg19UCSC Ensembl
Innerchr10:46198592..46200157hg18UCSC Ensembl
Outerchr10:46197622..46200170hg18UCSC Ensembl
Innerchr10:46198592..46200157hg17UCSC Ensembl
Outerchr10:46197622..46200170hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382558
hg192549
hg182549
hg172549
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA18572
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)nssv16969
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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