A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8627



Internal ID15846539
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:42829481..42859486hg38UCSC Ensembl
Outerchr10:43324929..43354934hg19UCSC Ensembl
Outerchr10:42644935..42674940hg18UCSC Ensembl
Outerchr10:42644935..42674940hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg3830006
hg1930006
hg1830006
hg1730006
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18295, nssv17814, nssv20401, nssv17822
SamplesNA18980, NA07029, NA18975, NA19240
Known GenesBMS1
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)nsv8627
Frequency
Sample Size31
Observed Gain3
Observed Loss1
Observed Complex0
Frequencyn/a


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