A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8738



Internal ID15846650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:125883224..125928907hg38UCSC Ensembl
Outerchr10:127571793..127617476hg19UCSC Ensembl
Outerchr10:127561783..127607466hg18UCSC Ensembl
Outerchr10:127561783..127607466hg17UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3845684
hg1945684
hg1845684
hg1745684
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv20347, nssv22613, nssv21942, nssv17885, nssv19675, nssv19310, nssv19266
SamplesNA18502, NA11830, NA18980, NA10847, NA10863, NA18853, NA18972
Known GenesFANK1
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)nsv8738
Frequency
Sample Size31
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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