A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16493



Internal ID15839353
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:26885034..26900084hg38UCSC Ensembl
Outerchr6:26883977..26900589hg38UCSC Ensembl
Innerchr6:26852813..26867863hg19UCSC Ensembl
Outerchr6:26851756..26868368hg19UCSC Ensembl
Innerchr6:26960792..26975842hg18UCSC Ensembl
Outerchr6:26959735..26976347hg18UCSC Ensembl
Innerchr6:26960792..26975842hg17UCSC Ensembl
Outerchr6:26959735..26976347hg17UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3816613
hg1916613
hg1816613
hg1716613
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10806
Supporting Variants
SamplesNA18972
Known GenesGUSBP2
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)nssv16493
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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