A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv19577



Internal ID15489266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:50002392..50003367hg38UCSC Ensembl
Outerchr10:50001973..50003507hg38UCSC Ensembl
Innerchr10:51762152..51763127hg19UCSC Ensembl
Outerchr10:51761733..51763267hg19UCSC Ensembl
Innerchr10:51432158..51433133hg18UCSC Ensembl
Outerchr10:51431739..51433273hg18UCSC Ensembl
Innerchr10:51432158..51433133hg17UCSC Ensembl
Outerchr10:51431739..51433273hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381535
hg191535
hg181535
hg171535
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8655
Supporting Variants
SamplesNA18563
Known GenesAGAP6
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)nssv19577
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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