A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv22049



Internal ID15496285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr14:73528019..73585770hg38UCSC Ensembl
Outerchr14:73525409..73587026hg38UCSC Ensembl
Innerchr14:73994723..74052474hg19UCSC Ensembl
Outerchr14:73992113..74053730hg19UCSC Ensembl
Innerchr14:73064476..73122227hg18UCSC Ensembl
Outerchr14:73061866..73123483hg18UCSC Ensembl
Innerchr14:73064476..73122227hg17UCSC Ensembl
Outerchr14:73061866..73123483hg17UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3861618
hg1961618
hg1861618
hg1761618
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv9153
Supporting Variants
SamplesNA19173
Known GenesACOT1, ACOT2, HEATR4
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)nssv22049
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer