A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv17063



Internal ID15839372
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:87694472..87702597hg38UCSC Ensembl
Outerchr6:87693837..87703877hg38UCSC Ensembl
Innerchr6:88404190..88412315hg19UCSC Ensembl
Outerchr6:88403555..88413595hg19UCSC Ensembl
Innerchr6:88460909..88469034hg18UCSC Ensembl
Outerchr6:88460274..88470314hg18UCSC Ensembl
Innerchr6:88460909..88469034hg17UCSC Ensembl
Outerchr6:88460274..88470314hg17UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg3810041
hg1910041
hg1810041
hg1710041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv7941
Supporting Variants
SamplesNA18972
Known GenesAKIRIN2
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)nssv17063
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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