A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv7977



Internal ID15845889
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:149567837..149569974hg38UCSC Ensembl
Outerchr6:149930666..149932803hg18UCSC Ensembl
Outerchr6:150064585..150066722hg17UCSC Ensembl
Cytoband6q25.1
Allele length
AssemblyAllele length
hg382138
hg182138
hg172138
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv15063
SamplesNA07048
Known GenesGINM1
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)nsv7977
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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