A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv8007



Internal ID15845919
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:168314570..168326337hg38UCSC Ensembl
Outerchr6:168715250..168727017hg19UCSC Ensembl
Outerchr6:168458099..168469866hg18UCSC Ensembl
Outerchr6:168533806..168545573hg17UCSC Ensembl
Cytoband6q27
Allele length
AssemblyAllele length
hg3811768
hg1911768
hg1811768
hg1711768
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnssv17850, nssv15184, nssv16971, nssv15908, nssv15396, nssv16482, nssv15316
SamplesNA18502, NA12155, NA18860, NA10839, NA10863, NA19221, NA18552
Known GenesDACT2
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)nsv8007
Frequency
Sample Size31
Observed Gain5
Observed Loss2
Observed Complex0
Frequencyn/a


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