A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv26203



Internal ID15487685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr16:30190528..30193113hg38UCSC Ensembl
Outerchr16:30189197..30193813hg38UCSC Ensembl
Innerchr16:30201849..30204434hg19UCSC Ensembl
Outerchr16:30200518..30205134hg19UCSC Ensembl
Innerchr16:30109350..30111935hg18UCSC Ensembl
Outerchr16:30108019..30112635hg18UCSC Ensembl
Innerchr16:30109350..30111935hg17UCSC Ensembl
Outerchr16:30108019..30112635hg17UCSC Ensembl
Cytoband16p11.2
Allele length
AssemblyAllele length
hg384617
hg194617
hg184617
hg174617
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9431
Supporting Variants
SamplesNA18517
Known GenesBOLA2, BOLA2B, LOC606724
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)nssv26203
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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