A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16887



Internal ID15495271
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:161772370..161778411hg38UCSC Ensembl
Outerchr6:161771511..161779780hg38UCSC Ensembl
Innerchr6:162193402..162199443hg19UCSC Ensembl
Outerchr6:162192543..162200812hg19UCSC Ensembl
Innerchr6:162113392..162119433hg18UCSC Ensembl
Outerchr6:162112533..162120802hg18UCSC Ensembl
Innerchr6:162163813..162169854hg17UCSC Ensembl
Outerchr6:162162954..162171223hg17UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg388270
hg198270
hg188270
hg178270
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7988
Supporting Variants
SamplesNA19132
Known GenesPARK2
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)nssv16887
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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