A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8640



Internal ID15499866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:49843671..49884800hg38UCSC Ensembl
Outerchr10:51051717..51092846hg19UCSC Ensembl
Outerchr10:50721723..50762852hg18UCSC Ensembl
Outerchr10:50721723..50762852hg17UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3841130
hg1941130
hg1841130
hg1741130
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv22461, nssv18656, nssv19397
SamplesNA18860, NA18563, NA19007
Known GenesPARG
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)nsv8640
Frequency
Sample Size31
Observed Gain1
Observed Loss2
Observed Complex0
Frequencyn/a


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