A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv14297



Internal ID15489361
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:46829770..46857443hg38UCSC Ensembl
Outerchr6:46829227..46858205hg38UCSC Ensembl
Innerchr6:46797507..46825180hg19UCSC Ensembl
Outerchr6:46796964..46825942hg19UCSC Ensembl
Innerchr6:46905466..46933139hg18UCSC Ensembl
Outerchr6:46904923..46933901hg18UCSC Ensembl
Innerchr6:46905466..46933139hg17UCSC Ensembl
Outerchr6:46904923..46933901hg17UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3828979
hg1928979
hg1828979
hg1728979
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7895
Supporting Variants
SamplesNA18563
Known GenesGPR116, MEP1A
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)nssv14297
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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