A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8634



Internal ID15499860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr10:46942462..46945540hg38UCSC Ensembl
Outerchr10:46606898..46609976hg19UCSC Ensembl
Outerchr10:46026904..46029982hg18UCSC Ensembl
Outerchr10:46026904..46029982hg17UCSC Ensembl
Cytoband10q11.21
Allele length
AssemblyAllele length
hg383079
hg193079
hg183079
hg173079
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv18586, nssv23508
SamplesNA19221, NA18552
Known GenesPTPN20A, PTPN20B
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)nsv8634
Frequency
Sample Size31
Observed Gain1
Observed Loss1
Observed Complex0
Frequencyn/a


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