A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14050



Internal ID15831682
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:167933427..168125305hg38UCSC Ensembl
Outerchr6:167932562..168126083hg38UCSC Ensembl
Innerchr6:168334107..168525985hg19UCSC Ensembl
Outerchr6:168333242..168526763hg19UCSC Ensembl
Innerchr6:168076956..168268834hg18UCSC Ensembl
Outerchr6:168076091..168269612hg18UCSC Ensembl
Innerchr6:168152663..168344541hg17UCSC Ensembl
Outerchr6:168151798..168345319hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg38193522
hg19193522
hg18193522
hg17193522
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv8004
Supporting Variants
SamplesNA12802
Known GenesFRMD1, HGC6.3, KIF25, KIF25-AS1, MLLT4
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)nssv14050
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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