A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19143



Internal ID15827794
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:38731540..38733549hg38UCSC Ensembl
Outerchr10:38731080..38736257hg38UCSC Ensembl
Innerchr10:39024671..39026680hg19UCSC Ensembl
Outerchr10:39024211..39029388hg19UCSC Ensembl
Innerchr10:39064677..39066686hg18UCSC Ensembl
Outerchr10:39064217..39069394hg18UCSC Ensembl
Innerchr10:39064677..39066686hg17UCSC Ensembl
Outerchr10:39064217..39069394hg17UCSC Ensembl
Cytoband10p11.1
Allele length
AssemblyAllele length
hg385178
hg195178
hg185178
hg175178
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8620
Supporting Variants
SamplesNA07048
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)nssv19143
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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