A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14857



Internal ID15830216
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:168472937..168476213hg38UCSC Ensembl
Outerchr6:168469078..168477768hg38UCSC Ensembl
Innerchr6:168873617..168876893hg19UCSC Ensembl
Outerchr6:168869758..168878448hg19UCSC Ensembl
Innerchr6:168616466..168619742hg18UCSC Ensembl
Outerchr6:168612607..168621297hg18UCSC Ensembl
Innerchr6:168692173..168695449hg17UCSC Ensembl
Outerchr6:168688314..168697004hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg388691
hg198691
hg188691
hg178691
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8008
Supporting Variants
SamplesNA11830
Known GenesSMOC2
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)nssv14857
Frequency
Sample Size31
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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