A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv23788



Internal ID15843690
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr10:46942700..46944727hg38UCSC Ensembl
Outerchr10:46941903..46945540hg38UCSC Ensembl
Innerchr10:48794635..48796662hg19UCSC Ensembl
Outerchr10:48793822..48797459hg19UCSC Ensembl
Innerchr10:48414641..48416668hg18UCSC Ensembl
Outerchr10:48413828..48417465hg18UCSC Ensembl
Innerchr10:48414641..48416668hg17UCSC Ensembl
Outerchr10:48413828..48417465hg17UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg383638
hg193638
hg183638
hg173638
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8636
Supporting Variants
SamplesNA19221
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)nssv23788
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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