A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv12360



Internal ID15844013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:241507998..241509054hg38UCSC Ensembl
Outerchr2:241507386..241509524hg38UCSC Ensembl
Innerchr2:242447413..242448469hg19UCSC Ensembl
Outerchr2:242446801..242448939hg19UCSC Ensembl
Innerchr2:242096086..242097142hg18UCSC Ensembl
Outerchr2:242095474..242097612hg18UCSC Ensembl
Innerchr2:242167403..242168459hg17UCSC Ensembl
Outerchr2:242166791..242168929hg17UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg382139
hg192139
hg182139
hg172139
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv10229
Supporting Variants
SamplesNA19221
Known GenesSTK25
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)nssv12360
Frequency
Sample Size31
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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